PPIL1

Chr 6p21.2

peptidylprolyl isomerase like 1

Aliases:: CYPL1
MANE:: ENST00000373699.6

OMIM: 601301 ↗NCBI: 51645 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PPIL1 · Q9Y3C6

v62025-08-01

Predicted Aligned Error matrix for PPIL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.8/ 100

Very high

166 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)6%
Low(50–70)1%
Very low(< 50)0%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

pontocerebellar hypoplasia, type 14
0.77
neurodegenerative disease
0.53
pontocerebellar hypoplasia
0.40
Non-syndromic pontocerebellar hypoplasia
0.40
dengue disease
0.37
hypothyroidism
0.33
neurodevelopmental disorder
0.27
major depressive disorder
0.19
hereditary disease
0.19
cardiac arrhythmia
0.10

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

Protein function (UniProt)

Peptidyl-prolyl cis-trans isomerase-like 1

Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:33220177). PPIases accelerate the folding of proteins. Catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (PubMed:16595688). Catalyzes prolyl peptide bond isomerization in CDC40/PRP17 (PubMed:33220177). Plays an important role in embryonic brain development; this function is independent of its isomerase activity (PubMed:33220177)