USH1G: Difference between revisions

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{{Infobox_gene}}
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'''Usher syndrome type-1G protein''' is a [[protein]] that in humans is encoded by the ''USH1G'' [[gene]].<ref name="pmid12588794">{{cite journal | vauthors = 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 | title = Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin | journal = Hum Mol Genet | volume = 12 | issue = 5 | pages = 463–71 |date=Feb 2003 | pmid = 12588794 | pmc =  | doi =10.1093/hmg/ddg051  }}</ref><ref name="entrez" />
'''Usher syndrome type-1G protein''' is a [[protein]] that in humans is encoded by the ''USH1G'' [[gene]].<ref name="pmid12588794">{{cite journal | vauthors = 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 | title = Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, [[USH1C|harmonin]] | journal = Hum Mol Genet | volume = 12 | issue = 5 | pages = 463–71 |date=Feb 2003 | pmid = 12588794 | pmc =  | doi =10.1093/hmg/ddg051  }}</ref><ref name="entrez" />


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| summary_text = 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).<ref name="entrez">{{cite web | title = Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=124590| accessdate = }}</ref>
| summary_text = This gene encodes a protein that contains three [[ankyrin]] domains, a class I PDZ-binding [[Structural motif|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).<ref name="entrez">{{cite web | title = Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=124590| accessdate = }}</ref>
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Latest revision as of 09:15, 28 February 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

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]

References

  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). "harmonin". Hum Mol Genet. 12 (5): 463–71. doi:10.1093/hmg/ddg051. PMID 12588794.
  2. ↑ 2.0 2.1 "Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive)".

External links

Further reading



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