PREPL

Chr 2p21

prolyl endopeptidase like

Aliases:: KIAA0436
MANE:: ENST00000409411.6

OMIM: 609557 ↗NCBI: 9581 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PREPL · Q4J6C6

v62025-08-01

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

Mean pLDDT

82.8/ 100

Confident

727 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)17%
Low(50–70)4%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

myasthenic syndrome, congenital, 22
0.58
cystinuria
0.57
hypotonia-cystinuria syndrome
0.55
Hypotonia - cystinuria syndrome
0.51
cystine urolithiasis
0.42
Premature ovarian insufficiency
0.42
Congenital myasthenic syndromes
0.38
Atypical hypotonia - cystinuria syndrome
0.37
Intellectual disability
0.27
esophageal varices
0.25

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

Protein function (UniProt)

Prolyl endopeptidase-like

Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330)