Property Summary

NCBI Gene PubMed Count 25
Grant Count 13
R01 Count 5
Funding $645,414.57
PubMed Score 35.06
PubTator Score 571.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.269 0.000
medulloblastoma, large-cell 1.300 0.000

Gene RIF (14)

PMID Text
25255398 USH1G caused a non-syndromic hearing loss in a Dutch family. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96).
24608321 In USH1G patients, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration.
22876113 A novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype has been identified in consanguineous Saudi Arabia siblings.
22219650 Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.
21767579 A role of the SANS-myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells.
21311020 crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2.8 angstrom resolution; MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM
21044053 A frameshift mutation in SANS results in atypical Usher syndrome
20801516 Observational study of genetic testing. (HuGE Navigator)
20142502 Mutations in harmonin and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins
19683999 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
More...

AA Sequence

MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDKCDIWGNTPLH      1 - 70
LAASNGHLHCLSFLVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSIAAKQSSLNPKLVGKLKDKAF     71 - 140
REAERRIRECAKLQRRHHERMERRYRRELAERSDTLSFSSLTSSTLSRRLQHLALGSHLPYSQATLHGTA    141 - 210
RGKTKMQKKLERRKQGGEGTFKVSEDGRKSARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMFLSDE    211 - 280
DSVSRATLAAEPAHSEVSTDSGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDGGLDGVGAPRGRLQSSP    281 - 350
SLDDDSLGSANSLQDRSCGEELPWDELDLGLDEDLEPETSPLETFLASLHMEDFAALLRQEKIDLEALML    351 - 420
CSDLDLRSISVPLGPRKKILGAVRRRRQAMERPPALEDTEL                                 421 - 461
//

Text Mined References (25)

PMID Year Title
25255398 Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.
24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
24608321 2014 Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
23704327 2013 The giant spectrin ?V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
22876113 2012 USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
22219650 2011 Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
21767579 2011 Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.
21709241 2011 Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.
21311020 2011 Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
21044053 2010 A frameshift mutation in SANS results in atypical Usher syndrome.
More...