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Aliases for TPP1 Gene

Aliases for TPP1 Gene

  • Tripeptidyl Peptidase 1 2 3
  • Tripeptidyl Peptidase I 2 3 5
  • Cell Growth-Inhibiting Gene 1 Protein 3 4
  • Tripeptidyl Aminopeptidase 3 4
  • EC 3.4.14.9 4 63
  • TPP-1 3 4
  • CLN2 3 4
  • LPIC 3 4
  • Ceroid-Lipofuscinosis, Neuronal 2, Late Infantile (Jansky-Bielschowsky Disease) 2
  • Spinocerebellar Ataxia, Autosomal Recessive 7 2
  • Lysosomal Pepstatin Insensitive Protease 3
  • Lysosomal Pepstatin-Insensitive Protease 4
  • Growth-Inhibiting Protein 1 3
  • Tripeptidyl-Peptidase I 4
  • TPP I 2
  • SCAR7 3
  • TPP-I 4
  • GIG1 3

External Ids for TPP1 Gene

Previous HGNC Symbols for TPP1 Gene

  • CLN2
  • SCAR7

Previous GeneCards Identifiers for TPP1 Gene

  • GC11M006591
  • GC11M006292

Summaries for TPP1 Gene

Entrez Gene Summary for TPP1 Gene

  • 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]

GeneCards Summary for TPP1 Gene

TPP1 (Tripeptidyl Peptidase 1) is a Protein Coding gene. Diseases associated with TPP1 include spinocerebellar ataxia, autosomal recessive 7 and ceroid lipofuscinosis, neuronal, 2. Among its related pathways are Lysosome and Innate Lymphoid Cell Differentiation Pathways. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity.

UniProtKB/Swiss-Prot for TPP1 Gene

  • Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).

Gene Wiki entry for TPP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPP1 Gene

Genomics for TPP1 Gene

Regulatory Elements for TPP1 Gene

Enhancers for TPP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TPP1 on UCSC Golden Path with GeneCards custom track

Promoters for TPP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TPP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TPP1 Gene

Chromosome:
11
Start:
6,612,763 bp from pter
End:
6,619,461 bp from pter
Size:
6,699 bases
Orientation:
Minus strand

Genomic View for TPP1 Gene

Genes around TPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPP1 Gene

Proteins for TPP1 Gene

  • Protein details for TPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14773-TPP1_HUMAN
    Recommended name:
    Tripeptidyl-peptidase 1
    Protein Accession:
    O14773
    Secondary Accessions:
    • Q53HT1
    • Q5JAK6
    • Q6UX56
    • Q71JP6
    • Q96C37

    Protein attributes for TPP1 Gene

    Size:
    563 amino acids
    Molecular mass:
    61248 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAM08412.1; Type=Miscellaneous discrepancy; Note=Incorrectly indicated as originating from bovine.; Evidence={ECO:0000305}; Sequence=AAQ88866.1; Type=Frameshift; Positions=551; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TPP1 Gene

    Alternative splice isoforms for TPP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPP1 Gene

Proteomics data for TPP1 Gene at MOPED

Post-translational modifications for TPP1 Gene

  • Activated by autocatalytic proteolytical processing upon acidification. N-glycosylation is required for processing and activity.
  • Glycosylation at Asn 210, Asn 222, Asn 286, Asn 313, and Asn 443
  • Modification sites at PhosphoSitePlus

Other Protein References for TPP1 Gene

Antibody Products

  • R&D Systems Antibodies for TPP1 (Tripeptidyl-Peptidase I/TPP1)

Domains & Families for TPP1 Gene

Protein Domains for TPP1 Gene

Graphical View of Domain Structure for InterPro Entry

O14773

UniProtKB/Swiss-Prot:

TPP1_HUMAN :
  • Contains 1 peptidase S53 domain.
Domain:
  • Contains 1 peptidase S53 domain.
genes like me logo Genes that share domains with TPP1: view

No data available for Gene Families for TPP1 Gene

Function for TPP1 Gene

Molecular function for TPP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Release of an N-terminal tripeptide from a polypeptide, but also has endopeptidase activity.
UniProtKB/Swiss-Prot Function:
Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus (By similarity).

Enzyme Numbers (IUBMB) for TPP1 Gene

Gene Ontology (GO) - Molecular Function for TPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 12134079
GO:0042277 peptide binding ISS --
genes like me logo Genes that share ontologies with TPP1: view
genes like me logo Genes that share phenotypes with TPP1: view

Human Phenotype Ontology for TPP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TPP1 Gene

MGI Knock Outs for TPP1:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for TPP1 Gene

Localization for TPP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPP1 Gene

Lysosome. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPP1 Gene COMPARTMENTS Subcellular localization image for TPP1 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
mitochondrion 3
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for TPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with TPP1: view

Pathways & Interactions for TPP1 Gene

genes like me logo Genes that share pathways with TPP1: view

Pathways by source for TPP1 Gene

Interacting Proteins for TPP1 Gene

Gene Ontology (GO) - Biological Process for TPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IMP 9295267
GO:0006629 lipid metabolic process TAS 9295267
GO:0007417 central nervous system development IBA --
GO:0030163 protein catabolic process NAS 10740217
GO:0043171 peptide catabolic process IMP 9989590
genes like me logo Genes that share ontologies with TPP1: view

No data available for SIGNOR curated interactions for TPP1 Gene

Drugs & Compounds for TPP1 Gene

(2) Drugs for TPP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for TPP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TPP1: view

Transcripts for TPP1 Gene

Unigene Clusters for TPP1 Gene

Tripeptidyl peptidase I:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e · 7f ·
SP1: - - - - - - -
SP2: - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - -
SP10: - - - - - - - - - -
SP11: - - - - - -
SP12: - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - - -
SP15: -
SP16: - - - -
SP17:
SP18:
SP19:

ExUns: 7g · 7h · 7i ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c
SP1: -
SP2: -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP5:
SP6: - - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for TPP1 Gene

GeneLoc Exon Structure for
TPP1
ECgene alternative splicing isoforms for
TPP1

Expression for TPP1 Gene

mRNA expression in normal human tissues for TPP1 Gene

Protein differential expression in normal tissues from HIPED for TPP1 Gene

This gene is overexpressed in Urine (8.6) and Adrenal (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TPP1 Gene



SOURCE GeneReport for Unigene cluster for TPP1 Gene Hs.523454

mRNA Expression by UniProt/SwissProt for TPP1 Gene

O14773-TPP1_HUMAN
Tissue specificity: Detected in all tissues examined with highest levels in heart and placenta and relatively similar levels in other tissues.
genes like me logo Genes that share expression patterns with TPP1: view

Protein tissue co-expression partners for TPP1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TPP1 Gene

Orthologs for TPP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TPP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TPP1 35
  • 89.88 (n)
  • 90.94 (a)
TPP1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPP1 35
  • 89.93 (n)
  • 89.7 (a)
TPP1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpp1 35
  • 86.42 (n)
  • 88.43 (a)
Tpp1 16
Tpp1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TPP1 35
  • 99.47 (n)
  • 99.64 (a)
TPP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tpp1 35
  • 85.91 (n)
  • 87.74 (a)
oppossum
(Monodelphis domestica)
Mammalia TPP1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPP1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPP1 35
  • 64.7 (n)
  • 63.18 (a)
TPP1 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPP1 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14983 35
tpp1 35
  • 62.81 (n)
  • 63.81 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23928 35
zebrafish
(Danio rerio)
Actinopterygii tpp1 35
  • 61.69 (n)
  • 63.25 (a)
wufa01b09 35
tpp1 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8262 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08418 35
  • 45.77 (n)
  • 37.11 (a)
Species with no ortholog for TPP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TPP1 Gene

ENSEMBL:
Gene Tree for TPP1 (if available)
TreeFam:
Gene Tree for TPP1 (if available)

Paralogs for TPP1 Gene

No data available for Paralogs for TPP1 Gene

Variants for TPP1 Gene

Sequence variations from dbSNP and Humsavar for TPP1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_005642 -
rs119455953 Ceroid lipofuscinosis, neuronal, 2 (CLN2) 6,616,057(-) CCGGG(C/T)GTTGG reference, missense
rs119455954 Ceroid lipofuscinosis, neuronal, 2 (CLN2) 6,616,056(-) CGGGT(A/G)TTGGT reference, missense
rs119455956 Ceroid lipofuscinosis, neuronal, 2 (CLN2) 6,615,256(-) TGGCC(A/G)TGCCT reference, missense
rs121908195 Ceroid lipofuscinosis, neuronal, 2 (CLN2) 6,618,776(-) AATAC(A/G)GTGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TPP1 Gene

Variant ID Type Subtype PubMed ID
nsv825755 CNV Gain 20364138
nsv896971 CNV Loss 21882294
nsv896972 CNV Loss 21882294

Variation tolerance for TPP1 Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPP1 Gene

HapMap Linkage Disequilibrium report
TPP1
Human Gene Mutation Database (HGMD)
TPP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPP1 Gene

Disorders for TPP1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TPP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 7
  • autosomal recessive spinocerebellar ataxia 7
ceroid lipofuscinosis, neuronal, 2
  • neuronal ceroid lipofuscinosis 2
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
late-infantile neuronal ceroid lipofuscinosis
  • jansky-bielschowsky disease
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
- elite association - COSMIC cancer census association via MalaCards
Search TPP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPP1_HUMAN
  • Ceroid lipofuscinosis, neuronal, 2 (CLN2) [MIM:204500]: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles. {ECO:0000269 PubMed:10330339, ECO:0000269 PubMed:10665500, ECO:0000269 PubMed:11241479, ECO:0000269 PubMed:11339651, ECO:0000269 PubMed:11589012, ECO:0000269 PubMed:12376936, ECO:0000269 PubMed:12414822, ECO:0000269 PubMed:12698559, ECO:0000269 PubMed:19201763, ECO:0000269 PubMed:20340139, ECO:0000269 PubMed:21990111, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:9295267}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia, autosomal recessive, 7 (SCAR7) [MIM:609270]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR7 patients show difficulty walking and writing, dysarthria, limb ataxia, and cerebellar atrophy. {ECO:0000269 PubMed:23418007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TPP1

Genetic Association Database (GAD)
TPP1
Human Genome Epidemiology (HuGE) Navigator
TPP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPP1
genes like me logo Genes that share disorders with TPP1: view

No data available for Genatlas for TPP1 Gene

Publications for TPP1 Gene

  1. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. (PMID: 9653647) Liu C.-G. … Lobel P. (Genomics 1998) 2 3 4 23 67
  2. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). (PMID: 23418007) Sun Y. … Maat-Kievit A.J. (Hum. Mutat. 2013) 2 3
  3. Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. (PMID: 20340139) Walus M. … Golabek A.A. (Hum. Mutat. 2010) 3 23
  4. Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. (PMID: 19038966) Pal A. … Steinfeld R. (J. Biol. Chem. 2009) 3 23
  5. Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. (PMID: 19038967) Guhaniyogi J. … Lobel P. (J. Biol. Chem. 2009) 3 23

Products for TPP1 Gene

Sources for TPP1 Gene

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