TPP1 tripeptidyl peptidase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Title: A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
Title: CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
TPP1 Inhibits DNA Damage Response and Chemosensitivity in Esophageal Cancer.
Title: TPP1 Inhibits DNA Damage Response and Chemosensitivity in Esophageal Cancer.
Tripeptidyl Peptidase 1 Regulates Human Trophoblast Cell Proliferation Implying a Role in Placentation.
Title: Tripeptidyl Peptidase 1 Regulates Human Trophoblast Cell Proliferation Implying a Role in Placentation.
Identification of three predictors of gastric cancer progression and prognosis.
Title: Identification of three predictors of gastric cancer progression and prognosis.
Tripeptidyl peptidase I promotes human endometrial epithelial cell adhesive capacity implying a role in receptivity.
Title: Tripeptidyl peptidase I promotes human endometrial epithelial cell adhesive capacity implying a role in receptivity.
Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.
Title: Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Title: Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
A High-Content Screen Identifies TPP1 and Aurora B as Regulators of Axonal Mitochondrial Transport.
Title: A High-Content Screen Identifies TPP1 and Aurora B as Regulators of Axonal Mitochondrial Transport.
In cases of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), TPP1 mutations c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occur in 60% of affected individuals in the sample, and account for 50% of disease-associated alleles. At least 86 variants (66%) are private to single families. Homozygosity occurs in 45% of individuals where both alleles are known (87% of reported individuals).
Title: Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36325 (e-PCR)
- UniSTS:18215

D11S3007 (e-PCR)
- UniSTS:152113

WI-11808 (e-PCR)
- UniSTS:12935

PMC193924P6 (e-PCR)
- UniSTS:271768

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 more info	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

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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

EC 3.4.14.9

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.