PRPF4
entrez
9128
canonical
uniprot
O43172
canonical
ensembl
ENSG00000136875
resolver
ensp
ENSP00000363313
resolver
ensp
ENSP00000363315
resolver
genesymbol
PRPF4
resolver
genesymbol_syn
PRP4
resolver
hgnc
HGNC:17349
resolver
uniprot
O43445
resolver
uniprot
O43864
resolver
uniprot
Q5T1M7
resolver
uniprot
Q5T1M8
resolver
uniprot
Q96DG2
resolver
uniprot
Q96IK4
resolver
uniprot_entry
PRP4_HUMAN
resolver
uniprot_entry
Q5T1M7_HUMAN
resolver
uniprot_sec
O43445
resolver
uniprot_sec
O43864
resolver
uniprot_sec
Q5T1M8
resolver
uniprot_sec
Q96DG2
resolver
uniprot_sec
Q96IK4
resolver
amino_acid_sequence
MASSRASSTQATKTKAPDDLVAPVVKKPHIYYGSLEEKERERLAKGESGILGKDGLKAGIEAGNINITSGEVFEIEEHISERQAEVLAEFERRKRARQINVSTDDSEVKACLRALGEPITLFGEGPAERRERLRNILSVVGTDALKKTKKDDEKSKKSKEEYQQTWYHEGPNSLKVARLWIANYSLPRAMKRLEEARLHKEIPETTRTSQMQELHKSLRSLNNFCSQIGDDRPISYCHFSPNSKMLATACWSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCAADGSVKLWSLDSDEPVADIEGHTVRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILHQEGHSMGVYDIAFHQDGSLAGTGGLDAFGRVWDLRTGRCIMFLEGHLKEIYGINFSPNGYHIATGSGDNTCKVWDLRQRRCVYTIPAHQNLVTGVKFEPIHGNFLLTGAYDNTAKIWTHPGWSPLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 70 (RP70) [MIM:615922]: 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:24419317, ECO:0000269|PubMed:25383878}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). {ECO:0000269|PubMed:25383878, ECO:0000269|PubMed:28781166}.
uniprot
proteins
mass_dalton
58449
uniprot
proteins
mutagenesis
MUTAGEN 192; /note="R->E: Decreases PRPF3 binding."; /evidence="ECO:0000269|PubMed:25383878"; MUTAGEN 192; /note="R->K: Decreases PRPF3 binding."; /evidence="ECO:0000269|PubMed:25383878"; MUTAGEN 192; /note="R->W: Decreases PRPF3 binding."; /evidence="ECO:0000269|PubMed:25383878
uniprot
proteins
pubmed
12875835
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16723661
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24419317
uniprot
proteins
pubmed
25383878
uniprot
proteins
pubmed
26030138
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28781166
uniprot
proteins
pubmed
9000057
uniprot
proteins
pubmed
9257651
uniprot
proteins
pubmed
9328476
uniprot
proteins
pubmed
9404889
uniprot
proteins
sequence_length
522
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25383878, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:9257651, ECO:0000269|PubMed:9328476, ECO:0000269|PubMed:9404889}. Nucleus speckle {ECO:0000305}.
uniprot
proteins