PRPF3
entrez
9129
canonical
uniprot
O43395
canonical
ensembl
ENSG00000117360
resolver
ensp
ENSP00000315379
resolver
ensp
ENSP00000577685
resolver
ensp
ENSP00000649037
resolver
ensp
ENSP00000684018
resolver
ensp
ENSP00000730587
resolver
genesymbol
PRPF3
resolver
genesymbol_syn
HPRP3
resolver
genesymbol_syn
PRP3
resolver
hgnc
HGNC:17348
resolver
uniprot
B4DSY9
resolver
uniprot
O43446
resolver
uniprot
Q5VT54
resolver
uniprot_entry
PRPF3_HUMAN
resolver
uniprot_sec
B4DSY9
resolver
uniprot_sec
O43446
resolver
uniprot_sec
Q5VT54
resolver
amino_acid_sequence
MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSKSSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 18 (RP18) [MIM:601414]: 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:11773002, ECO:0000269|PubMed:12714658, ECO:0000269|PubMed:17932117}. 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:26912367, ECO:0000269|PubMed:28781166, ECO:0000305|PubMed:20595234}.
uniprot
proteins
mass_dalton
77529
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. Undergoes 'Lys-63'-linked polyubiquitination by PRPF19 and deubiquitination by USP4. 'Lys-63'-linked ubiquitination increases the affinity for PRPF8 and may regulate the assembly of the U4/U6-U5 tri-snRNP complex. {ECO:0000269|PubMed:20595234}.
uniprot
proteins
pubmed
11773002
uniprot
proteins
pubmed
12714658
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15314151
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16723661
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17932117
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20595234
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26030138
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28781166
uniprot
proteins
pubmed
9328476
uniprot
proteins
pubmed
9404889
uniprot
proteins
sequence_length
683
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17932117, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:9328476, ECO:0000269|PubMed:9404889}. Nucleus speckle.
uniprot
proteins