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19888 Rp1

19888

Rp1

retinitis pigmentosa 1 (human)

protein-coding

Mus musculus

基因描述

Type Description
Definition retinitis pigmentosa 1 (human)

研究结论

Date Results Publications
2016-05-07 11:33:00 The L66P mutation in the first doublecortin domain of the Rp1 gene impairs Rp1 protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration. 25088982
2010-01-21 00:00:00 The disruption of Rp1 changed gene expression in the c-Jun N-terminal kinase signaling cascades. 16126734
2010-01-21 00:00:00 RP1 is a photoreceptor-specific microtubule-associated protein that participates in controlling the length and stability of the photoreceptor axoneme. 15269252
2010-01-21 00:00:00 RP1 is required for the correct orientation and higher order stacking of outer segment discs. 14507858
2010-01-21 00:00:00 Rp1 and Rp1L1 play essential and synergistic roles in affecting photosensitivity and morphogenesis of rod photoreceptors. Our findings suggest that mutations in RP1L1 could underlie retinopathy or modify RP1 disease expression 19657028

名称对应

Type IDs
Synonymous Dcdc3, Orp1, Rp1h, mG145
Gene
UniProtKB-ID: RP1_MOUSE, Q4VA02_MOUSE, Q8BXN6_MOUSE
UniprotKB: P56716, Q4VA02, Q8BXN6
UniParc: UPI00000EA650, UPI000051DC07, UPI00000010C7
EMBL: BC120928, AK044612, BC120927, BC096607, AF291754, AF155141
Ensembl: ENSMUSG00000025900
KO: mmu:19888
Nucleutide sequences
EMBL-CDS: AAI20929.1, AAD42089.2, AAM17919.1, AAI20928.1, AAH96607.1, BAC32003.1
Ensembl_TRS: ENSMUST00000027032
Protein sequencees
Ensembl_PRO: ENSMUSP00000027032
RefSeq: NP_035413.1, NP_001182591.1, XP_030108185.2, NP_001357850.1
Others
UniRef100: UniRef100_Q4VA02, UniRef100_P56716
UniRef90: UniRef90_P56716
UniRef50: UniRef50_P56715
UniGene: Mm.294263
CCDS: CCDS14804.1

全选

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