PRPF6
entrez
24148
canonical
uniprot
O94906
canonical
ensembl
ENSG00000101161
resolver
ensp
ENSP00000266079
resolver
ensp
ENSP00000525597
resolver
genesymbol
PRPF6
resolver
genesymbol_syn
C20orf14
resolver
hgnc
HGNC:15860
resolver
uniprot
B2RAR5
resolver
uniprot
B3KMC6
resolver
uniprot
O95109
resolver
uniprot
Q5VXS5
resolver
uniprot
Q9H3Z1
resolver
uniprot
Q9H4T9
resolver
uniprot
Q9H4U8
resolver
uniprot
Q9NTE6
resolver
uniprot_entry
PRP6_HUMAN
resolver
uniprot_sec
B2RAR5
resolver
uniprot_sec
B3KMC6
resolver
uniprot_sec
O95109
resolver
uniprot_sec
Q5VXS5
resolver
uniprot_sec
Q9H3Z1
resolver
uniprot_sec
Q9H4T9
resolver
uniprot_sec
Q9H4U8
resolver
uniprot_sec
Q9NTE6
resolver
amino_acid_sequence
MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRIYIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDARIMLSRAVECCPTSVELWLALARLETYENARKVLNKARENIPTDRHIWITAAKLEEANGNTQMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAVMRAVIGIGIEEEDRKHTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEKNHGTRESLEALLQRAVAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPNSEEIWLAAVKLESENDEYERARRLLAKARSSAPTARVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWMMKGQIEEQKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEKSRLKNPKNPGLWLESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVDALKKCEHDPHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKRCESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 60 (RP60) [MIM:613983]: 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:21549338}. Note=The disease may be caused by variants affecting the gene represented in this entry. Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals.
uniprot
proteins
function
FUNCTION: Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:20118938, PubMed:21549338, PubMed:28781166). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation. {ECO:0000269|PubMed:12039962, ECO:0000269|PubMed:20118938, ECO:0000269|PubMed:21549338, ECO:0000269|PubMed:28781166}.
uniprot
proteins
mass_dalton
106925
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PRP4K during spliceosome assembly. {ECO:0000269|PubMed:20118938}.
uniprot
proteins
pubmed
10561546
uniprot
proteins
pubmed
10788320
uniprot
proteins
pubmed
10848612
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
12039962
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16723661
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20118938
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21549338
uniprot
proteins
pubmed
22235333
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28781166
uniprot
proteins
pubmed
34023904
uniprot
proteins
sequence_length
941
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:10561546, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:34023904}. Nucleus speckle {ECO:0000269|PubMed:21549338}. Note=Localized in splicing speckles. {ECO:0000269|PubMed:21549338}.
uniprot
proteins