Type |
Details |
Score |
Protein Domain |
Type: |
Domain |
Description: |
pre-mRNA splicing regulator USH1G (also known as SANS) is a multifunctional scaffold protein. It regulates Magi2-mediated endocytosis []and interacts with MYO7A and USH1C []. Mice lacking USH1G exhibit a loss of tip-links, defects in stereocilia morphology and organization, loss of mechanotransduction currents, and perturbations to hearing and balance []. Mutations in human USH1G gene cause Usher syndrome 1G (USH1G), a genetically heterogeneous condition characterised by the association of retinitis pigmentosa with sensorineural deafness []. USH1G has an N-terminal ankyrin repeat region and a C-terminal SAM domain []. The SAM domain is a putative protein-protein interaction domain. |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Myo7a/Myo7a<4626SB> |
Background: |
involves: BALB/c * 47BS/Rl * C3HeB/FeJ * CBA/Ca |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Hprt1/Hprt1<+> Myo7a<4626SB>/Myo7a<4626SB> |
Background: |
involves: 129S7/SvEvBrd * BALB/cRl * C3H * C57BL/6J * CBA/Ca |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Ballesteros A |
Year: |
2022 |
Journal: |
Sci Rep |
Title: |
Selective binding and transport of protocadherin 15 isoforms by stereocilia unconventional myosins in a heterologous expression system. |
Volume: |
12 |
Issue: |
1 |
Pages: |
13764 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
radiation induced mutation, inversion, mutant stock, chromosome aberration, chemically induced mutation |
|
•
•
•
•
•
|
Publication |
First Author: |
Grati M |
Year: |
2011 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. |
Volume: |
108 |
Issue: |
28 |
Pages: |
11476-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bolz H |
Year: |
2001 |
Journal: |
Nat Genet |
Title: |
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. |
Volume: |
27 |
Issue: |
1 |
Pages: |
108-12 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fernández-Medarde A |
Year: |
2009 |
Journal: |
J Neurochem |
Title: |
RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations. |
Volume: |
110 |
Issue: |
2 |
Pages: |
641-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gilels F |
Year: |
2013 |
Journal: |
J Neurosci |
Title: |
Mutation of Foxo3 causes adult onset auditory neuropathy and alters cochlear synapse architecture in mice. |
Volume: |
33 |
Issue: |
47 |
Pages: |
18409-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kelley PM |
Year: |
1997 |
Journal: |
Genomics |
Title: |
The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). |
Volume: |
40 |
Issue: |
1 |
Pages: |
73-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Xiong A |
Year: |
2018 |
Journal: |
J Biol Chem |
Title: |
The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step. |
Volume: |
293 |
Issue: |
3 |
Pages: |
819-829 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu Y |
Year: |
2018 |
Journal: |
J Cell Sci |
Title: |
Unconventional myosin VIIA promotes melanoma progression. |
Volume: |
131 |
Issue: |
4 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
McGrath J |
Year: |
2021 |
Journal: |
Curr Biol |
Title: |
Actin at stereocilia tips is regulated by mechanotransduction and ADF/cofilin. |
Volume: |
31 |
Issue: |
6 |
Pages: |
1141-1153.e7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wu L |
Year: |
2011 |
Journal: |
Science |
Title: |
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo. |
Volume: |
331 |
Issue: |
6018 |
Pages: |
757-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Buniello A |
Year: |
2013 |
Journal: |
PLoS One |
Title: |
Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness. |
Volume: |
8 |
Issue: |
2 |
Pages: |
e56274 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chang B |
Year: |
2024 |
Journal: |
MGI Direct Data Submission |
Title: |
The retinal cone dysfunction mutation. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Weil D |
Year: |
1997 |
Journal: |
Nat Genet |
Title: |
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. |
Volume: |
16 |
Issue: |
2 |
Pages: |
191-3 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
461
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
461
 |
Fragment?: |
false |
|
•
•
•
•
•
|