USH1G

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Usher syndrome 1G (autosomal recessive)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols USH1G ; ANKS4A; SANS
External IDs OMIM607696 MGI2450757 HomoloGene56113 GeneCards: USH1G Gene
RNA expression pattern
PBB GE USH1G gnf1h10421 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 124590 16470
Ensembl ENSG00000182040 ENSMUSG00000045288
UniProt Q495M9 Q80T11
RefSeq (mRNA) NM_001282489 NM_176847
RefSeq (protein) NP_001269418 NP_789817
Location (UCSC) Chr 17:
72.91 – 72.92 Mb
Chr 11:
115.32 – 115.32 Mb
PubMed search [1] [2]

Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.[1][2]

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G).[2]

External links[edit]

References[edit]

  1. ^ Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (Feb 2003). "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 12 (5): 463–71. doi:10.1093/hmg/ddg051. PMID 12588794. 
  2. ^ a b "Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)". 

Further reading[edit]