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10594 PRPF8

10594

PRPF8

pre-mRNA processing factor 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition pre-mRNA processing factor 8

研究结论

Date Results Publications
2020-10-24 14:08:00 The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit. 31914407
2019-10-05 10:53:00 Mutation Analysis of Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa. 30360737
2019-10-05 10:44:00 Knockdown of PRPF8 significantly impairs mitophagosome formation and subsequent mitochondrial clearance through the aberrant mRNA splicing of ULK1, which mediates macroautophagy/autophagy initiation. 30103670
2019-02-09 10:40:00 a pathogenic variant (p.Val956Gly) in the PRPF8 gene, which segregates with glaucoma in Dutch family, is reported. 28707069
2018-04-14 11:20:00 Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted next-generation sequencing. Families with noted examples of phenotypic variation or apparent non-penetrant individuals may offer a clue to suspect complex inheritance. 28761320

名称对应

Type IDs
Synonymous HPRP8, PRP8, PRPC8, RP13, SNRNP220
Gene
UniProtKB-ID: PRP8_HUMAN
UniprotKB: Q6P2Q9
UniParc: UPI000006F2DD
EMBL: AF092565, AB007510, BC064370
Ensembl: ENSG00000274442, ENSG00000174231
KO: hsa:10594
Nucleutide sequences
EMBL-CDS: AAH64370.1, BAA22563.1, AAC61776.1
Ensembl_TRS: ENST00000634039, ENST00000614672, ENST00000304992, ENST00000572621
Protein sequencees
Ensembl_PRO: ENSP00000460348, ENSP00000479194, ENSP00000304350, ENSP00000488611
RefSeq: XP_024306305.1, NP_006436.3
Others
UniRef100: UniRef100_Q6P2Q9
UniRef90: UniRef90_Q6P2Q9
UniRef50: UniRef50_Q6P2Q9
UniGene: Hs.181368
CCDS: CCDS11010.1

全选

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