TPP1 (GeneID: 1200) | Homo sapiens
Description: tripeptidyl peptidase 1 [Source:HGNC Symbol;Acc:HGNC:2073]
Synonyms: SCAR7, CLN2, LPIC, TPP-1, GIG1
Other ID(s): HGNC:2073, ENSG00000166340
Protein Accession Numbers: ENST00000528657, ENST00000299427.6, NP_000382, ENST00000528571, ENST00000299427, ENST00000533371, ENST00000436873
Statistics: gnomAD(51)
gnomAD Variants By Annotation

∙ 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 ENST00000436873 ENST00000528571 ENST00000528657 ENST00000533371 NP_000382


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
PF09286 Pro-kuma_activ Pro-kumamolisin, activation domain 33-176 CL0570 PPP-I Mus musculus

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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