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68988 Prpf31

68988

Prpf31

pre-mRNA processing factor 31

protein-coding

Mus musculus

基因描述

Type Description
Definition pre-mRNA processing factor 31

研究结论

Date Results Publications
2020-06-20 11:46:00 In a mouse model containing the p.A216P mutation in Prpf31, study found mislocalization and aggregation of the mutant Prpf31 protein with concomitant depletion of normal protein. These results indicate mixed haploinsufficiency and dominant negative mechanisms involved in retinal degeneration due to mutations in PRPF31. 31892304
2020-02-08 11:37:00 major retinal pigment epithelium defects were identified in Prpf31-mutant mice 31884616
2016-05-07 10:43:00 The mouse retinal pigment epithelium (RPE)is the primary cell affected by mutations in the RNA splicing factors (PRPF3, PRPF8, and PRPF31), and these changes occur at an early age. 25111227
2011-08-06 10:37:00 found that PRP31 and PRPC8 as well as snRNAs are highly expressed in retinal cells 21283520
2011-07-16 10:50:00 CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31 21385873

名称对应

Type IDs
Synonymous 1500019O16Rik, 2810404O06Rik, AW554706, PRP31, RP11
Gene
UniProtKB-ID: PRP31_MOUSE
UniprotKB: Q8CCF0
UniParc: UPI00003575DB, UPI0006B2D8CC, UPI0000021093
EMBL: CT010189, AK051260, AK044398, AK033190, AC130680, AK044457, AK033283, AY040823, BC057877, AK005294, BC018376, BC061461
Ensembl: ENSMUSG00000008373
KO: mmu:68988
Nucleutide sequences
EMBL-CDS: BAC34578.1, AAK77987.1, BAC25109.1, CAJ18397.1, AAH57877.1, BAC31931.1, BAC28220.1, AAH61461.1, BAC28192.1, BAC31903.1, AAH18376.1
Ensembl_TRS: ENSMUST00000125782, ENSMUST00000179769, ENSMUST00000108636, ENSMUST00000008517
Protein sequencees
Ensembl_PRO: ENSMUSP00000136031, ENSMUSP00000146017, ENSMUSP00000104276, ENSMUSP00000008517
RefSeq: NP_001153186.1, NP_081604.3
Others
UniRef100: UniRef100_Q8CCF0
UniRef90: UniRef90_Q8WWY3
UniRef50: UniRef50_Q8WWY3
UniGene: Mm.246863
CCDS: CCDS39729.1, CCDS51965.1

全选

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