• Gene id: 1200

Gene Summary

• Gene Symbol: TPP1   Gene   UCSC   Ensembl
• Aliases: CLN2, GIG1, LPIC, SCAR7, TPP-1
• Gene name: tripeptidyl peptidase 1
• Alternate names: tripeptidyl-peptidase 1, cell growth-inhibiting gene 1 protein, growth-inhibiting protein 1, lysosomal pepstatin insensitive protease, lysosomal pepstatin-insensitive carboxypeptidase, tripeptidyl aminopeptidase, tripeptidyl peptidase I,
• Gene location: 11p15.4 (6619421: 6612767)     Exons: 13     NC_000011.10
• Gene summary(Entrez): 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 wh
• OMIM: 607998

Protein Summary

• Protein general information: O14773  
  • Name: Tripeptidyl peptidase 1 (TPP 1) (EC 3.4.14.9) (Cell growth inhibiting gene 1 protein) (Lysosomal pepstatin insensitive protease) (LPIC) (Tripeptidyl aminopeptidase) (Tripeptidyl peptidase I) (TPP I)
  • Length: 563  
  • Mass: 61248
  • Tissue specificity: Detected in all tissues examined with highest levels in heart and placenta and relatively similar levels in other tissues.
• Sequence:

  MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQ
  YGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHV
  VRSPHPYQLPQALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQ
  ACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEG
  QEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFR
  PTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYP
  DVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHES
  CLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP

• Structural information:
  • Protein Domains: (199..56-)
    (/note="Peptidase-S53")
  • Interpro: IPR036852  IPR015366  IPR030400  
  • Prosite: PS51695
  • CDD: cd04056 cd11377
  • PDB: 1R60 3EDY 3EE6
  • PDBsum: 1R60 3EDY 3EE6
  • DIP: 47434
  • STRING: ENSP00000299427
• Other Databases: GeneCards:  TPP1  Malacards:  TPP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070198	protein localization to chromosome, telomeric region	IMP	biological process
GO:0008240	tripeptidyl-peptidase activity	IBA	molecular function
GO:0007417	central nervous system development	IBA	biological process
GO:0006508	proteolysis	IBA	biological process
GO:0004175	endopeptidase activity	IBA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0035727	lysophosphatidic acid binding	IDA	molecular function
GO:0055037	recycling endosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0120146	sulfatide binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0007040	lysosome organization	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0008240	tripeptidyl-peptidase activity	IDA	molecular function
GO:0008240	tripeptidyl-peptidase activity	IDA	molecular function
GO:0008240	tripeptidyl-peptidase activity	IDA	molecular function
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0045453	bone resorption	IMP	biological process
GO:0043171	peptide catabolic process	IMP	biological process
GO:0043171	peptide catabolic process	IMP	biological process
GO:0030163	protein catabolic process	NAS	biological process
GO:0008236	serine-type peptidase activity	IMP	molecular function
GO:0007399	nervous system development	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004175	endopeptidase activity	IMP	molecular function
GO:0050885	neuromuscular process controlling balance	ISS	biological process
GO:0008240	tripeptidyl-peptidase activity	IMP	molecular function
GO:0008240	tripeptidyl-peptidase activity	IMP	molecular function
GO:0008233	peptidase activity	IMP	molecular function
GO:0005764	lysosome	IMP	cellular component
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0042277	peptide binding	ISS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007040	lysosome organization	ISS	biological process
GO:0006508	proteolysis	IMP	biological process
GO:0006508	proteolysis	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Neuronal ceroid lipofuscinosis	KEGG:H00149
Jansky-Bielschowsky disease	KEGG:H02278
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Neuronal ceroid lipofuscinosis	KEGG:H00149
Jansky-Bielschowsky disease	KEGG:H02278
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)