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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
647
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Pathogenic rs119455955, rs1057516319, rs1057516945 RCV001813939
RCV001814153
RCV001836808
Angelman syndrome Pathogenic rs756564767 RCV001804926
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
RCV002498846
RCV005049449
RCV005050723
RCV005051262
RCV005049466
RCV002485283
RCV005049465
RCV000763269
RCV002492873
RCV005050658
RCV005050691
RCV005051267
RCV005051379
RCV005049534
RCV005049533
RCV002530680
RCV001644760
RCV005049636
RCV005049642
RCV005049652
RCV002493105
RCV005049707
RCV005049696
RCV001252369
RCV005049416
RCV005049417
RCV002497463
RCV000074609
RCV005050311
RCV005050306
RCV001252370
Cervical cancer Likely pathogenic rs1330875156 RCV005931640
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs1800753, rs115795247 RCV005889349
RCV005901517
Clear cell carcinoma of kidney Benign; Likely benign; Uncertain significance rs1800753, rs775276482, rs1800746 RCV005889352
RCV005924321
RCV005890412
Gastric cancer Benign; Likely benign rs1800753, rs375262484 RCV005889354
RCV005892206
Hepatocellular carcinoma Benign; Likely benign rs1800746 RCV005890410
Associations from Text MiningDisease 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