Tpp1 (GeneID: 12751) | Mus musculus
Description: tripeptidyl peptidase I [Source:MGI Symbol;Acc:MGI:1336194]
Synonyms: TPP-I, Cln2, TPP-1, LPIC
Other ID(s): MGI:1336194, ENSMUSG00000030894
Protein Accession Numbers: NP_034036, XP_011239970
Statistics: ClinVar(406) gnomAD(530) COSMIC(163) PTM(5)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000299427 You are here now! ENST00000436873 ENST00000528571 ENST00000528657 ENST00000533371 NP_000382 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00082 Peptidase_S8 Subtilase family 257-495 Homo sapiens
PF09286 Pro-kuma_activ Pro-kumamolisin, activation domain 33-176 CL0570 PPP-I Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.611 0.586
Ataxias, Hereditary Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.611 0.586
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.611 0.586
Late-Infantile Neuronal Ceroid Lipfuscinosis Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.611 0.586
Adult Neuronal Ceroid Lipofuscinosis Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.611 0.586
Neuronal Ceroid-Lipofuscinoses Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.611 0.586
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.611 0.586
Hyperammonemia Pathological Conditions, Signs and Symptoms ; 0.611 0.586
Infantile neuronal ceroid lipofuscinosis Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.611 0.586
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.611 0.586
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.611 0.586
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.611 0.586
Epileptic encephalopathy N/A 0.611 0.586
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.611 0.586
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.611 0.586
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.611 0.586
Juvenile Neuronal Ceroid Lipofuscinosis Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.611 0.586
Ceroid Lipofuscinosis, Neuronal, Parry Type Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.611 0.586
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.611 0.586
CEROID LIPOFUSCINOSIS, NEURONAL, 2 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.611 0.586
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.611 0.586
NO RESULT FOUND
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