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O94906 Proteins with HAT Repeats
Uniprot ID: O94906
Protein name : Pre-mRNA-processing factor 6
Gene : PRPF6 C20orf14
Protein Families :
Squence Length : 941
Sequence
>O94906 942 MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRIYIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDARIMLSRAVECCPTSVELWLALARLETYENARKVLNKARENIPTDRHIWITAAKLEEANGNTQMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAVMRAVIGIGIEEEDRKHTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEKNHGTRESLEALLQRAVAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPNSEEIWLAAVKLESENDEYERARRLLAKARSSAPTARVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWMMKGQIEEQKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEKSRLKNPKNPGLWLESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVDALKKCEHDPHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKRCESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF
Repeat regions
REPEAT 384 416 HAT 1 REPEAT 418 444 HAT 2 REPEAT 445 476 HAT 3 REPEAT 554 586 HAT 4 REPEAT 588 620 HAT 5 REPEAT 622 654 HAT 6 REPEAT 689 721 HAT 7 REPEAT 723 755 HAT 8 REPEAT 855 887 HAT 9
Sequence region of repeats
384- 416 IRAKKRVLRKALEHVPNSVRLWKAAVELEEPED 418- 444 RIMLSRAVECCPTSVELWLALARLETY 445- 476 ENARKVLNKARENIPTDRHIWITAAKLEEANG 554- 586 LECARAIYAYALQVFPSKKSVWLRAAYFEKNHG 588- 620 RESLEALLQRAVAHCPKAEVLWLMGAKSKWLAG 622- 654 VPAARSILALAFQANPNSEEIWLAAVKLESEND 689- 721 IRAAQDLCEEALRHYEDFPKLWMMKGQIEEQKE 723- 755 MEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIG 855- 887 ITKAREWFHRTVKIDSDLGDAWAFFYKFELQHG
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:28781166, PubMed:21549338). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation"
Disease
"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 Note=The disease may be caused by mutations affecting the gene represented in this entry Cells from RP60 patients show intron retention for pre-mRNA bearing specific splicing signals"