TPP1

Chr 11p15.4

tripeptidyl peptidase 1

Aliases:: LPIC, TPP-1
MANE:: ENST00000299427.12

OMIM: 607998 ↗NCBI: 1200 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TPP1 · O14773

v62025-08-01

Predicted Aligned Error matrix for TPP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.5/ 100

Very high

563 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)12%
Low(50–70)3%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomal

+10 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

neuronal ceroid lipofuscinosis 2
0.80
CLN2 disease
0.79
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
0.77
autosomal recessive spinocerebellar ataxia 7
0.75
neuronal ceroid lipofuscinosis
0.72
juvenile neuronal ceroid lipofuscinosis
0.66
late infantile neuronal ceroid lipofuscinosis
0.60
hereditary disease
0.53
infantile neuronal ceroid lipofuscinosis
0.51
Intellectual disability
0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tripeptidyl-peptidase 1

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 proteinases (PubMed:11054422, PubMed:19038966, PubMed:19038967). Requires substrates with an unsubstituted N-terminus (PubMed:19038966)