Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1200
Gene name Gene Name - the full gene name approved by the HGNC.
Tripeptidyl peptidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPP1
Synonyms (NCBI Gene) Gene synonyms aliases
CLN2, GIG1, LPIC, SCAR7, TPP-1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
Summary Summary of gene provided in NCBI Entrez 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 wh
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28940573 G>A Pathogenic Coding sequence variant, missense variant
rs56144125 C>A,G,T Pathogenic, likely-pathogenic Splice acceptor variant
rs113019349 C>G,T Likely-pathogenic Splice donor variant
rs119455953 A>G Pathogenic Coding sequence variant, missense variant
rs119455954 C>T Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022359 hsa-miR-124-3p Microarray 18668037
MIRT037364 hsa-miR-877-5p CLASH 23622248
MIRT054112 hsa-miR-7-5p Microarray 22995316
MIRT459839 hsa-miR-130a-3p PAR-CLIP 23592263
MIRT459838 hsa-miR-130b-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IBA
GO:0004175 Function Endopeptidase activity IDA 10965052
GO:0004175 Function Endopeptidase activity IMP 10679303
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 12134079, 17237713, 19941651, 22763445, 25544563, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607998 2073 ENSG00000166340
Protein
UniProt ID O14773
Protein 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)
Protein function Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal prot
PDB 3EDY , 3EE6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09286 Pro-kuma_activ 33 176 Pro-kumamolisin, activation domain Domain
PF00082 Peptidase_S8 255 495 Subtilase family Domain
Tissue specificity TISSUE SPECIFICITY: Detected in all tissues examined with highest levels in heart and placenta and relatively similar levels in other tissues.
Sequence
Sequence length 563
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lysosome   XBP1(S) activates chaperone genes
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis rs1424116749, rs878855331, rs121908202, rs1564855860, rs119455953, rs752164603, rs756564767, rs119455958, rs1216139602, rs553522118, rs786204553, rs119455954, rs121908197, rs1554901463, rs1554901784
View all (58 more)
N/A
Spinocerebellar Ataxia Autosomal recessive spinocerebellar ataxia 7 rs398122959, rs1184563885, rs56144125, rs121908200 N/A
Angelman Syndrome angelman syndrome rs756564767 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation intellectual disability N/A N/A ClinVar
seizure Seizure N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Aplastic Associate 25205116
Blindness Associate 18283468
Bone Marrow Diseases Associate 25205116
Bone Marrow Failure Disorders Associate 25205116
Breast Neoplasms Stimulate 10883885
Breast Neoplasms Associate 16518810, 23884293
Burns Associate 25844669
Cell Transformation Neoplastic Associate 26365187
Cerebral Cortical Thinning Stimulate 26822727
Ceroid Lipofuscinosis Neuronal 1 Inhibit 27553878