PPIL1
entrez
51645
canonical
uniprot
Q9Y3C6
canonical
ensembl
ENSG00000137168
resolver
ensp
ENSP00000362803
resolver
enst
ENST00000373699
resolver
genesymbol
PPIL1
resolver
genesymbol_syn
CYPL1
resolver
hgnc
HGNC:9260
resolver
uniprot
O15001
resolver
uniprot
Q5TDC9
resolver
uniprot_entry
PPIL1_HUMAN
resolver
uniprot_sec
O15001
resolver
uniprot_sec
Q5TDC9
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by Cyclosporin A. {ECO:0000269|PubMed:16595688}.
uniprot
proteins
amino_acid_sequence
MAAIPPDSWQPPNVYLETSMGIIVLELYWKHAPKTCKNFAELARRGYYNGTKFHRIIKDFMIQGGDPTGTGRGGASIYGKQFEDELHPDLKFTGAGILAMANAGPDTNGSQFFVTLAPTQWLDGKHTIFGRVCQGIGMVNRVGMVETNSQDRPVDDVKIIKAYPSG
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301]: 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. {ECO:0000269|PubMed:33220177}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.2.1.8
uniprot
proteins
function
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). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:16595688, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:33220177}.
uniprot
proteins
mass_dalton
18237
uniprot
proteins
mutagenesis
MUTAGEN 55; /note="R->A: Loss of isomerase activity. Can rescue splicing defects when transfected in knockout cells."; /evidence="ECO:0000269|PubMed:33220177
uniprot
proteins
protein_family
Cyclophilin-type PPIase family
uniprot
proteins
protein_family
PPIL1 subfamily
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16595688
uniprot
proteins
pubmed
20368803
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28076346
uniprot
proteins
pubmed
28502770
uniprot
proteins
pubmed
33220177
uniprot
proteins
pubmed
8978786
uniprot
proteins
sequence_length
166
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}.
uniprot
proteins