PRPF31
entrez
26121
canonical
uniprot
Q8WWY3
canonical
ensembl
ENSG00000105618
resolver
ensembl
ENSG00000274144
resolver
ensembl
ENSG00000274651
resolver
ensembl
ENSG00000274894
resolver
ensembl
ENSG00000275117
resolver
ensembl
ENSG00000275885
resolver
ensembl
ENSG00000276421
resolver
ensembl
ENSG00000277154
resolver
ensembl
ENSG00000277707
resolver
ensembl
ENSG00000277953
resolver
ensp
ENSP00000324122
resolver
ensp
ENSP00000531484
resolver
ensp
ENSP00000786680
resolver
genesymbol
PRPF31
resolver
genesymbol_syn
PRP31
resolver
hgnc
HGNC:15446
resolver
uniprot
E7ESA8
resolver
uniprot
F1T0A4
resolver
uniprot
F1T0A5
resolver
uniprot
Q17RB4
resolver
uniprot
Q8N7F9
resolver
uniprot
Q9H271
resolver
uniprot
Q9Y439
resolver
uniprot_entry
PRP31_HUMAN
resolver
uniprot_sec
E7ESA8
resolver
uniprot_sec
F1T0A4
resolver
uniprot_sec
F1T0A5
resolver
uniprot_sec
Q17RB4
resolver
uniprot_sec
Q8N7F9
resolver
uniprot_sec
Q9H271
resolver
uniprot_sec
Q9Y439
resolver
amino_acid_sequence
MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLSGDSVKTIAKLWDSKMFAEIMMKIEEYISKQAKASEVMGPVEAAPEYRVIVDANNLTVEIENELNIIHKFIRDKYSKRFPELESLVPNALDYIRTVKELGNSLDKCKNNENLQQILTNATIMVVSVTASTTQGQQLSEEELERLEEACDMALELNASKHRIYEYVESRMSFIAPNLSIIIGASTAAKIMGVAGGLTNLSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYHSDIVQSLPPDLRRKAARLVAAKCTLAARVDSFHESTEGKVGYELKDEIERKFDKWQEPPPVKQVKPLPAPLDGQRKKRGGRRYRKMKERLGLTEIRKQANRMSFGEIEEDAYQEDLGFSLGHLGKSGSGRVRQTQVNEATKARISKTLQRTLQKQSVVYGGKSTIRDRSSGTASSVAFTPLQGLEIVNPQAAEKKVAEANQKYFSSMAEFLKVKGEKSGLMST
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 11 (RP11) [MIM:600138]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11545739, ECO:0000269|PubMed:12444105, ECO:0000269|PubMed:12923864, ECO:0000269|PubMed:17412961, ECO:0000269|PubMed:8808602}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:20118938, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543). {ECO:0000269|PubMed:11867543, ECO:0000269|PubMed:20118938, ECO:0000269|PubMed:28781166}.
uniprot
proteins
mass_dalton
55456
uniprot
proteins
mutagenesis
MUTAGEN 270; /note="H->A,K: Reduces binding to the complex formed by U4 snRNA and SNU13."; /evidence="ECO:0000269|PubMed:17412961"; MUTAGEN 351..364; /note="Missing: Abolishes nuclear localization."; /evidence="ECO:0000269|PubMed:12444105
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PRP4K during spliceosome assembly. {ECO:0000269|PubMed:20118938}.
uniprot
proteins
protein_family
PRP31 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11545739
uniprot
proteins
pubmed
11867543
uniprot
proteins
pubmed
12444105
uniprot
proteins
pubmed
12747765
uniprot
proteins
pubmed
12923864
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15960975
uniprot
proteins
pubmed
16723661
uniprot
proteins
pubmed
17412961
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20118938
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21385873
uniprot
proteins
pubmed
21697133
uniprot
proteins
pubmed
21784869
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28781166
uniprot
proteins
pubmed
34023904
uniprot
proteins
pubmed
8808602
uniprot
proteins
sequence_length
499
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12444105, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:34023904}. Nucleus speckle {ECO:0000269|PubMed:11867543}. Nucleus, Cajal body {ECO:0000269|PubMed:11867543}. Note=Predominantly found in speckles and in Cajal bodies. {ECO:0000269|PubMed:11867543}.
uniprot
proteins