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Aliases for TPP1 Gene

Aliases for TPP1 Gene

  • Tripeptidyl Peptidase I 2 3
  • CLN2 3 4 6
  • Cell Growth-Inhibiting Gene 1 Protein 3 4
  • Tripeptidyl Aminopeptidase 3 4
  • EC 3.4.14.9 4 63
  • SCAR7 3 6
  • TPP-1 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 1 3
  • Tripeptidyl-Peptidase I 4
  • TPP I 2
  • 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 I) is a Protein Coding gene. Diseases associated with TPP1 include ceroid lipofuscinosis, neuronal, 2 and spinocerebellar ataxia, autosomal recessive 7. Among its related pathways are Lysosome and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. 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

Genomic Location for TPP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Ca(2+) ion per subunit.;
    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 Asn210, Asn222, Asn286, Asn313, and Asn443
  • Modification sites at PhosphoSitePlus

Other Protein References for TPP1 Gene

Domains for TPP1 Gene

Protein Domains for TPP1 Gene

Graphical View of Domain Structure for InterPro Entry

O14773

UniProtKB/Swiss-Prot:

TPP1_HUMAN :
  • O14773
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:0004175 endopeptidase activity IMP 10679303
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 12134079
GO:0008233 peptidase activity IMP 9295267
GO:0008236 serine-type peptidase activity IMP 11054422
genes like me logo Genes that share ontologies with TPP1: view
genes like me logo Genes that share phenotypes with TPP1: view

Animal Models for TPP1 Gene

MGI Knock Outs for TPP1:

miRNA for TPP1 Gene

miRTarBase miRNAs that target TPP1

No data available for Transcription Factor Targeting 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
lysosome 5
vacuole 5
extracellular 2
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005764 lysosome IMP 9295267
GO:0042470 melanosome IEA --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TPP1: view

Pathways 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 IMP 10965052
GO:0006629 lipid metabolic process TAS 9295267
GO:0006987 activation of signaling protein activity involved in unfolded protein response --
GO:0007040 lysosome organization ISS --
GO:0007399 nervous system development IMP 9295267
genes like me logo Genes that share ontologies with TPP1: view

Compounds for TPP1 Gene

(3) HMDB Compounds for TPP1 Gene

Compound Synonyms Cas Number PubMed IDs
Neuromedin B
  • Gly-Asn-Leu-Trp-Ala-Thr-Gly-His-Phe-Met-NH2
87096-84-2
Neuromedin B (1-3)
  • Gly-Asn-Leu
Not Available
Neuromedin B (4-10)
  • Trp-Ala-Thr-Gly-His-Phe-Met-NH2
Not Available

(6) Novoseek inferred chemical compound relationships for TPP1 Gene

Compound -log(P) Hits PubMed IDs
tripeptide s 82.5 16
serine 31.6 12
mannose 6-phosphate 30.5 1
atp 10.2 5
oligonucleotide 6.89 3
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with TPP1: view

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia TPP1 35
  • 99.47 (n)
  • 99.64 (a)
TPP1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia TPP1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPP1 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tpp1 35
  • 85.91 (n)
  • 87.74 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.23928 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14983 35
tpp1 35
  • 62.81 (n)
  • 63.81 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8262 35
zebrafish
(Danio rerio)
Actinopterygii tpp1 35
  • 61.69 (n)
  • 63.25 (a)
tpp1 36
  • 58 (a)
OneToOne
wufa01b09 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 MAF
rs1128396 Likely benign 6,614,875(-) GCAGG(A/T)CTCTT reference, synonymous-codon
rs1800207 -- 6,617,871(-) CCAGG(C/G)TTTGG intron-variant
rs1800710 -- 6,616,943(-) CCTCA(C/T)AGCCT intron-variant
rs1800723 -- 6,615,069(-) ATGTC(C/T)GATAC intron-variant
rs1800732 -- 6,619,522(-) GCATT(C/T)GGGAC upstream-variant-2KB

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

Relevant External Links for TPP1 Gene

HapMap Linkage Disequilibrium report
TPP1
Human Gene Mutation Database (HGMD)
TPP1
Locus Specific Mutation Databases (LSDB)
TPP1

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

Disorders for TPP1 Gene

(2) OMIM Diseases for TPP1 Gene (607998)

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.

(2) University of Copenhagen DISEASES for TPP1 Gene

(12) Novoseek inferred disease relationships for TPP1 Gene

Disease -log(P) Hits PubMed IDs
lincl 98.9 108
neuronal ceroid lipofuscinoses 95.6 10
batten disease 84.7 4
lysosomal storage diseases 79.9 6
neurodegenerative diseases 73.5 16

Relevant External Links for TPP1

GeneTests
TPP1
GeneReviews
TPP1
Genetic Association Database (GAD)
TPP1
Human Genome Epidemiology (HuGE) Navigator
TPP1
genes like me logo Genes that share disorders with TPP1: view

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
  2. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. (PMID: 11339651) Zhong N. … Brown W.T. (Genet. Med. 2000) 3 4 23
  3. The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH. (PMID: 11054422) Lin L. … Lobel P. (J. Biol. Chem. 2001) 3 4 23
  4. Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of- function mutations. (PMID: 11462245) Lin L. … Lobel P. (Hum. Mutat. 2001) 3 4 23
  5. Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation. (PMID: 12698559) Bukina A.M. … Il'ina E.S. (Vopr. Med. Khim. 2002) 3 4 23

Products for TPP1 Gene

  • Addgene plasmids for TPP1

Sources for TPP1 Gene

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