Gene Gene information from NCBI Gene database.
Entrez ID 1200
Gene name Tripeptidyl peptidase 1
Gene symbol TPP1
Synonyms (NCBI Gene)
CLN2GIG1LPICSCAR7TPP-1
Chromosome 11
Chromosome location 11p15.4
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 wh
SNPs SNP information provided by dbSNP.
86
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.
903
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607998 2073 ENSG00000166340
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the nervous system Pathogenic rs119455955, rs1057516319, rs1057516945 RCV001813939
RCV001814153
RCV001836808
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Angelman syndrome Pathogenic rs756564767 RCV001804926
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive spinocerebellar ataxia 7 Pathogenic; Likely pathogenic rs119455954, rs119455955, rs56144125, rs119455956, rs119455957, rs786204753, rs778232650, rs1344527425, rs2493800333, rs750428882, rs763162812, rs756564767, rs202189057, rs1200992439, rs2493795881
View all (19 more)
RCV002496238
RCV000763267
RCV000074608
RCV005049313
RCV000763266
View all (31 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer Likely pathogenic rs1330875156 RCV005931640
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 2 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET AUTOSOMAL RECESSIVE SLOWLY PROGRESSIVE SPINOCEREBELLAR ATAXIA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations