CDC40
entrez
51362
canonical
uniprot
O60508
canonical
ensembl
ENSG00000168438
resolver
ensp
ENSP00000304370
resolver
ensp
ENSP00000357928
resolver
enst
ENST00000307731
resolver
enst
ENST00000368932
resolver
genesymbol
CDC40
resolver
genesymbol_syn
EHB3
resolver
genesymbol_syn
PRP17
resolver
genesymbol_syn
PRPF17
resolver
hgnc
HGNC:17350
resolver
uniprot
B2RBC5
resolver
uniprot
O75471
resolver
uniprot
Q5SRN0
resolver
uniprot
Q9UPG1
resolver
uniprot_entry
PRP17_HUMAN
resolver
uniprot_sec
B2RBC5
resolver
uniprot_sec
O75471
resolver
uniprot_sec
Q5SRN0
resolver
uniprot_sec
Q9UPG1
resolver
amino_acid_sequence
MSAAIAALAASYGSGSGSESDSDSESSRCPLPAADSLMHLTKSPSSKPSLAVAVDSAPEVAVKEDLETGVHLDPAVKEVQYNPTYETMFAPEFGPENPFRTQQMAAPRNMLSGYAEPAHINDFMFEQQRRTFATYGYALDPSLDNHQVSAKYIGSVEEAEKNQGLTVFETGQKKTEKRKKFKENDASNIDGFLGPWAKYVDEKDVAKPSEEEQKELDEITAKRQKKGKQEEEKPGEEKTILHVKEMYDYQGRSYLHIPQDVGVNLRSTMPPEKCYLPKKQIHVWSGHTKGVSAVRLFPLSGHLLLSCSMDCKIKLWEVYGERRCLRTFIGHSKAVRDICFNTAGTQFLSAAYDRYLKLWDTETGQCISRFTNRKVPYCVKFNPDEDKQNLFVAGMSDKKIVQWDIRSGEIVQEYDRHLGAVNTIVFVDENRRFVSTSDDKSLRVWEWDIPVDFKYIAEPSMHSMPAVTLSPNGKWLACQSMDNQILIFGAQNRFRLNKKKIFKGHMVAGYACQVDFSPDMSYVISGDGNGKLNIWDWKTTKLYSRFKAHDKVCIGAVWHPHETSKVITCGWDGLIKLWD
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 15 (PCH15) [MIM:619302]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH15 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 spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. {ECO:0000269|PubMed:33220177}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:33220177). Plays an important role in embryonic brain development; this function does not require proline isomerization (PubMed:33220177). {ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30705154, ECO:0000269|PubMed:33220177, ECO:0000269|PubMed:9830021}.
uniprot
proteins
mass_dalton
65521
uniprot
proteins
mutagenesis
MUTAGEN 95; /note="P->A: Loss of isomerization. Can rescue splicing defects when transfected in knockout cells."; /evidence="ECO:0000269|PubMed:33220177
uniprot
proteins
post_translational_modification
PTM: Undergoes isomerization of the peptide bond between Gly-94 and Pro-95. The reaction is catalyzed by PPIL1. {ECO:0000269|PubMed:33220177}.
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28076346
uniprot
proteins
pubmed
28502770
uniprot
proteins
pubmed
29301961
uniprot
proteins
pubmed
29360106
uniprot
proteins
pubmed
29361316
uniprot
proteins
pubmed
30705154
uniprot
proteins
pubmed
33220177
uniprot
proteins
pubmed
9303539
uniprot
proteins
pubmed
9524131
uniprot
proteins
pubmed
9769104
uniprot
proteins
pubmed
9830021
uniprot
proteins
sequence_length
579
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30705154}. Nucleus speckle {ECO:0000269|PubMed:9830021}.
uniprot
proteins