PPIL1

Function

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).

Involvement in disease

Pontocerebellar hypoplasia 14

PCH14

A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH14 is a severe autosomal recessive form characterized by progressive microcephaly, and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Early death may occur in some patients.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily.

Tissue Specificity

Ubiquitous, with the most abundant expression in heart and skeletal muscle.

Cellular localization

• Nucleus

Alternative names

CYPL1, CGI-124, UNQ2425/PRO4984, PPIL1, Peptidyl-prolyl cis-trans isomerase-like 1, PPIase, Rotamase PPIL1

Database links

swissprot:Q9Y3C6 entrezGene:51645 swissprot:Q5TDC9 omim:601301