Type | Description |
---|---|
Definition | pre-mRNA processing factor 8 |
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 |
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
|
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Refseq |
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