Type | Description |
---|---|
Definition | USH1 protein network component sans |
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 |
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
|
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