USH1G

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USH1G
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases USH1G, ANKS4A, SANS, USH1 protein network component sans
External IDs MGI: 2450757 HomoloGene: 56113 GeneCards: USH1G
RNA expression pattern
PBB GE USH1G gnf1h10421 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282489
NM_173477

NM_176847

RefSeq (protein)

NP_001269418
NP_775748

NP_789817.1
NP_789817

Location (UCSC) Chr 17: 74.92 – 74.92 Mb Chr 11: 115.32 – 115.32 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.[3][4]

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).[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)". 

External links[edit]

Further reading[edit]