GenTIGS

Tripeptidyl peptidase 1 (TPP1) Associated conditions: 1. Neuronal ceroid lipofuscinosis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000391.4	NP_000382.3	NC_000011.10	(6612767..6619421, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1164 reference articles

Variant Information Tripeptidyl peptidase 1 (TPP1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Tripeptidyl peptidase 1 (TPP1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Tripeptidyl peptidase 1 (TPP1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	endopeptidase activity	Function	-
2	Homo sapiens	IDA	enables	endopeptidase activity	Function	10965052
3	Homo sapiens	IMP	enables	endopeptidase activity	Function	10679303
4	Homo sapiens	IEA	enables	serine-type endopeptidase activity	Function	-
5	Homo sapiens	IPI	enables	protein binding	Function	12134079 17237713 19941651 22763445 25544563 32814053
6	Homo sapiens	IDA	located_in	lysosome	Component	15317752 17237713 19941651
7	Homo sapiens	IEA	located_in	lysosome	Component	-
8	Homo sapiens	IMP	located_in	lysosome	Component	9295267
9	Homo sapiens	IDA	located_in	Golgi apparatus	Component	17237713
10	Homo sapiens	IBA	involved_in	proteolysis	Process	-
11	Homo sapiens	IEA	involved_in	proteolysis	Process	-
12	Homo sapiens	IMP	involved_in	proteolysis	Process	9295267 10965052
13	Homo sapiens	TAS	involved_in	lipid metabolic process	Process	9295267
14	Homo sapiens	ISS	involved_in	lysosome organization	Process	-
15	Homo sapiens	IMP	involved_in	nervous system development	Process	9295267
16	Homo sapiens	IBA	involved_in	central nervous system development	Process	-
17	Homo sapiens	IEA	enables	peptidase activity	Function	-
18	Homo sapiens	IMP	enables	peptidase activity	Function	9295267
19	Homo sapiens	IEA	enables	serine-type peptidase activity	Function	-
20	Homo sapiens	IMP	enables	serine-type peptidase activity	Function	11054422
21	Homo sapiens	IBA	enables	tripeptidyl-peptidase activity	Function	-
22	Homo sapiens	IDA	enables	tripeptidyl-peptidase activity	Function	10965052 11054422 12134079
23	Homo sapiens	IEA	enables	tripeptidyl-peptidase activity	Function	-
24	Homo sapiens	IMP	enables	tripeptidyl-peptidase activity	Function	10617131 10679303
25	Homo sapiens	IEA	enables	hydrolase activity	Function	-
26	Homo sapiens	NAS	involved_in	protein catabolic process	Process	10740217
27	Homo sapiens	IEP	involved_in	epithelial cell differentiation	Process	21492153
28	Homo sapiens	IDA	enables	lysophosphatidic acid binding	Function	18317235
29	Homo sapiens	ISS	enables	peptide binding	Function	-
30	Homo sapiens	IEA	located_in	melanosome	Component	-
31	Homo sapiens	IMP	involved_in	peptide catabolic process	Process	9989590 15158442
32	Homo sapiens	TAS	located_in	lysosomal lumen	Component	-
33	Homo sapiens	IDA	located_in	membrane raft	Component	17237713
34	Homo sapiens	IMP	involved_in	bone resorption	Process	8215436
35	Homo sapiens	IEA	enables	metal ion binding	Function	-
36	Homo sapiens	ISS	involved_in	neuromuscular process controlling balance	Process	-
37	Homo sapiens	IDA	located_in	recycling endosome	Component	17237713
38	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867 23533145
39	Homo sapiens	IMP	involved_in	protein localization to chromosome, telomeric region	Process	20404094
40	Homo sapiens	IDA	enables	sulfatide binding	Function	18317235