Sequence Detail

ID/Version

Q80T11 Q80UG0 (UniProt | EBI)

Last sequence update: 2003-06-01
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=pre-mRNA splicing regulator USH1G {ECO:0000305};AltName: Full=Jackson shaker protein;AltName: Full=Scaffold protein containing ankyrin repeats and SAM domain;AltName: Full=Usher syndrome type-1G protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 461 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Ush1g	USH1 protein network component sans	64	99	4	11

Sequence references in MGI

J:82022 Kikkawa Y, et al., Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice. Hum Mol Genet. 2003 Mar 1;12(5):453-61
J:82023 Weil D, et al., Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003 Mar 1;12(5):463-71
J:171218 Caberlotto E, et al., Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc Natl Acad Sci U S A. 2011 Apr 5;108(14):5825-30
J:174394 Grati M, et al., Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11476-81
J:210992 Bauss K, et al., Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. Hum Mol Genet. 2014 Aug 1;23(15):3923-42
J:311093 Sorusch N, et al., SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins. Front Cell Dev Biol. 2019;7:216