Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.[5][6]

USH1G
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUSH1G, ANKS4A, SANS, USH1 protein network component sans
External IDsOMIM: 607696 MGI: 2450757 HomoloGene: 56113 GeneCards: USH1G
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for USH1G
Genomic location for USH1G
Band17q25.1Start74,916,083 bp[1]
End74,923,256 bp[1]
RNA expression pattern
PBB GE USH1G gnf1h10421 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282489
NM_173477

NM_176847

RefSeq (protein)

NP_001269418
NP_775748

NP_789817

Location (UCSC)Chr 17: 74.92 – 74.92 MbChr 11: 115.32 – 115.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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).[6]

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182040 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045288 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)".

Further readingEdit

External linksEdit