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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, [[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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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Usher syndrome 1G (autosomal recessive)
| HGNCid = 16356
| Symbol = USH1G
| AltSymbols =; ANKS4A; FLJ33924; SANS
| OMIM = 607696
| ECnumber = 
| Homologene = 56113
| MGIid = 2450757
| GeneAtlas_image1 = PBB_GE_USH1G_gnf1h10421_at_tn.png
| Function =
| Component =
| Process = {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
  | Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 124590
    | Hs_Ensembl = ENSG00000182040
    | Hs_RefseqProtein = NP_775748
    | Hs_RefseqmRNA = NM_173477
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 17
    | Hs_GenLoc_start = 70423771
    | Hs_GenLoc_end = 70430946
    | Hs_Uniprot = Q495M9
    | Mm_EntrezGene = 16470
    | Mm_Ensembl = ENSMUSG00000045288
    | Mm_RefseqmRNA = NM_176847
    | Mm_RefseqProtein = NP_789817
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 115131282
    | Mm_GenLoc_end = 115138131
    | Mm_Uniprot = Q0VBT9
  }}
}}
'''Usher syndrome 1G (autosomal recessive)''', also known as '''USH1G''', is a human [[gene]].<ref name="entrez" />


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{{PBB_Summary
{{PBB Summary
| section_title =  
| section_title =  
| 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 = http://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>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=usher1  GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I]
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER |title=The molecular genetics of Usher syndrome. |journal=Clin. Genet. |volume=63 |issue= 6 |pages= 431-44 |year= 2004 |pmid= 12786748 |doi=  }}
*{{cite journal  | vauthors=Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER |title=The molecular genetics of Usher syndrome. |journal=Clin. Genet. |volume=63 |issue= 6 |pages= 431–44 |year= 2004 |pmid= 12786748 |doi=10.1034/j.1399-0004.2003.00109.x }}
*{{cite journal | author=Ahmed ZM, Riazuddin S, Bernstein SL, ''et al.'' |title=Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 25-34 |year= 2001 |pmid= 11398101 |doi=  }}
*{{cite journal   |vauthors=Ahmed ZM, Riazuddin S, Bernstein SL, etal |title=Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 25–34 |year= 2001 |pmid= 11398101 |doi=10.1086/321277  | pmc=1226045 }}
*{{cite journal | author=Mustapha M, Chouery E, Torchard-Pagnez D, ''et al.'' |title=A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. |journal=Hum. Genet. |volume=110 |issue= 4 |pages= 348-50 |year= 2002 |pmid= 11941484 |doi= 10.1007/s00439-002-0690-x }}
*{{cite journal   |vauthors=Mustapha M, Chouery E, Torchard-Pagnez D, etal |title=A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. |journal=Hum. Genet. |volume=110 |issue= 4 |pages= 348–50 |year= 2002 |pmid= 11941484 |doi= 10.1007/s00439-002-0690-x }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
*{{cite journal | author=Weil D, El-Amraoui A, Masmoudi S, ''et al.'' |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 |year= 2003 |pmid= 12588794 |doi= }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Ouyang XM, Yan D, Du LL, etal |title=Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. |journal=Hum. Genet. |volume=116 |issue= 4 |pages= 292–9 |year= 2005 |pmid= 15660226 |doi= 10.1007/s00439-004-1227-2 }}
*{{cite journal | author=Ouyang XM, Yan D, Du LL, ''et al.'' |title=Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. |journal=Hum. Genet. |volume=116 |issue= 4 |pages= 292-9 |year= 2005 |pmid= 15660226 |doi= 10.1007/s00439-004-1227-2 }}
*{{cite journal   |vauthors=Kalay E, de Brouwer AP, Caylan R, etal |title=A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. |journal=J. Mol. Med. |volume=83 |issue= 12 |pages= 1025–32 |year= 2006 |pmid= 16283141 |doi= 10.1007/s00109-005-0719-4 }}
*{{cite journal | author=Kalay E, de Brouwer AP, Caylan R, ''et al.'' |title=A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. |journal=J. Mol. Med. |volume=83 |issue= 12 |pages= 1025-32 |year= 2006 |pmid= 16283141 |doi= 10.1007/s00109-005-0719-4 }}
}}
}}
{{refend}}
{{refend}}


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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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