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74023 Rd3

74023

Rd3

retinal degeneration 3

protein-coding

Mus musculus

基因描述

Type Description
Definition retinal degeneration 3

研究结论

Date Results Publications
2017-12-23 11:07:00 Study describes a mouse model of Leber's Congenital Amaurosis type 1 and 12 with autosomal recessive mutation in rd3 gene. The substitution mutation in the Rd3 gene is predicted to cause a stop codon after residue 106. 27150101
2017-05-20 14:16:00 the main RetGC-binding interface on RD3 required for the negative regulation of the cyclase localizes to the Lys(87)-Leu(122) region. 27471269
2015-05-09 12:35:00 Direct association between RD3 and GCAP1 is important for GC1 targeting. 25477517
2014-03-22 10:37:00 Studies indicate that RD3 plays an essential role in the exit of guanylate cyclase from the endoplasmic reticulum and its trafficking to photoreceptor outer segments. 23740938
2013-09-28 11:24:00 Changes in gene expression associated with photoreceptor degeneration in the rd3 mouse model of Leber congenital amaurosis (LCA) type 12, are characterized. 23687432

名称对应

Type IDs
Synonymous 3322402L07Rik, rd-3, rd3
Gene
UniProtKB-ID: RD3_MOUSE, Q05D96_MOUSE
UniprotKB: Q8BRE0, Q05D96
UniParc: UPI00000EAE26, UPI0000E57360
EMBL: BC017602, AK045045, AB030195, AK014383, BC103778, BC116935, BC116937, AC182412
Ensembl: ENSMUSG00000049353, ENSMUSG00000111723
KO: mmu:74023
Nucleutide sequences
EMBL-CDS: BAA92758.1, AAI16938.1, BAB29312.2, BAC32196.1, AAI16936.1, AAI03779.1, AAH17602.1
Ensembl_TRS: ENSMUST00000217431, ENSMUST00000180463, ENSMUST00000181512, ENSMUST00000175680
Protein sequencees
Ensembl_PRO: ENSMUSP00000138049, ENSMUSP00000150477, ENSMUSP00000137756, ENSMUSP00000135650
RefSeq: XP_006497268.1, NP_001290061.1, NP_076216.3, NP_001171371.2, XP_006497269.1, XP_036009770.1, XP_036009772.1
Others
UniRef100: UniRef100_Q05D96, UniRef100_Q8BRE0
UniRef90: UniRef90_Q05D96, UniRef90_Q8BRE0
UniRef50: UniRef50_Q05D96, UniRef50_Q8BRE0
UniGene: Mm.274393
CCDS: CCDS15626.3

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