PPIL1

This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq]

peptidylprolyl isomerase (cyclophilin)-like 1

Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346, 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).

Embryonic brain developmentManual Assertion Based On ExperimentIMP:UniProtKB
mRNA splicing, via spliceosomeManual Assertion Based On ExperimentIDA:UniProtKB
Protein foldingIEA:InterPro
Protein peptidyl-prolyl isomerizationManual Assertion Based On ExperimentIDA:UniProtKB

Nucleus

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.