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16470 Ush1g

16470

Ush1g

USH1 protein network component sans

protein-coding

Mus musculus

基因描述

Type Description
Definition USH1 protein network component sans

研究结论

Date Results Publications
2018-12-22 12:13:00 under normal housing conditions, Ush1g(-/-) and Ush1c(-/-) albino mice have dysfunctional cone photoreceptors whereas pigmented knockout animals have normal photoreceptors. 29386551
2018-07-28 11:19:00 C-terminal hairpin extensions of the whirlin PDZ domains mediate the transient supramodular assembly, which improves the binding capacity of the first domain towards its partners, such as Sans. 28966015
2017-07-29 11:36:00 These results clearly show that the development of early-onset progressive hearing loss (ePHL) requires at least two mutant alleles of the Ush1g and Cdh23 genes. Our results also suggest that because the SANS and CDH23 proteins form a complex in the stereocilia, the interaction between these proteins may play key roles in the maintenance of stereocilia and the prevention of ePHL. 26936824
2015-02-21 11:12:00 In Usher syndrome 1G, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration. 24608321
2012-09-22 11:21:00 USH1G (Sans) form the upper tip-link complex in adult mice 22381527

名称对应

Type IDs
Synonymous Sans, js
Gene
UniProtKB-ID: USH1G_MOUSE, Q0VBT9_MOUSE
UniprotKB: Q80T11, Q0VBT9
UniParc: UPI0000002077
EMBL: BC137807, BC120509, AB087502, AB087501
Ensembl: ENSMUSG00000045288
KO: mmu:16470
Nucleutide sequences
EMBL-CDS: BAC57430.1, BAC57426.1, AAI37808.1, AAI20510.1
Ensembl_TRS: ENSMUST00000103037
Protein sequencees
Ensembl_PRO: ENSMUSP00000099326
RefSeq: NP_789817.1, XP_017169789.1
Others
UniRef100: UniRef100_Q80T11
UniRef90: UniRef90_Q495M9
UniRef50: UniRef50_Q495M9
UniGene: Mm.451539
CCDS: CCDS25627.1

全选

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