Sequence Detail

ID/Version

Q9ES64 Q91XD1 Q9CVG7 Q9ES65 (UniProt | EBI)

Last sequence update: 2001-03-01
Last annotation update: 2024-01-24

Sequence description from provider

RecName: Full=Harmonin;AltName: Full=PDZ domain-containing protein;AltName: Full=Usher syndrome type-1C protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 910 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	Ush1c	USH1 protein network component harmonin	65	102	3	13

Sequence references in MGI

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:82099 Johnston AM, et al., Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. Genes Cells. 2004 Oct;9(10):967-82
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:106804 Reiners J, et al., Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005 Dec 15;14(24):3933-43
J:157359 Grillet N, et al., Harmonin mutations cause mechanotransduction defects in cochlear hair cells. Neuron. 2009 May 14;62(3):375-87
J:186070 Adato A, et al., Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet. 2005 Dec 15;14(24):3921-32
J:212327 Crawley SW, et al., Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. Cell. 2014 Apr 10;157(2):433-46
J:230576 Crawley SW, et al., ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation. Dev Cell. 2016 Jan 25;36(2):190-200
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89