Ush1g USH1 protein network component sans [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ush1gprovided by MGI
Official Full Name: USH1 protein network component sansprovided by MGI
Primary source: MGI:MGI:2450757
See related: Ensembl:ENSMUSG00000045288 AllianceGenome:MGI:2450757
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: js; Sans
Summary: 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 combined auditory and vision loss. [provided by RefSeq, Sep 2015]
Expression: Biased expression in ovary adult (RPKM 4.5), frontal lobe adult (RPKM 2.2) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 80.84 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (115206018..115214239, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (115315192..115333736, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

under normal housing conditions, Ush1g(-/-) and Ush1c(-/-) albino mice have dysfunctional cone photoreceptors whereas pigmented knockout animals have normal photoreceptors.
Title: Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.
C-terminal hairpin extensions of the whirlin PDZ domains mediate the transient supramodular assembly, which improves the binding capacity of the first domain towards its partners, such as Sans.
Title: Structural Characterization of Whirlin Reveals an Unexpected and Dynamic Supramodule Conformation of Its PDZ Tandem.
These results clearly show that the development of early-onset progressive hearing loss (ePHL) requires at least two mutant alleles of the Ush1g and Cdh23 genes. Our results also suggest that because the SANS and CDH23 proteins form a complex in the stereocilia, the interaction between these proteins may play key roles in the maintenance of stereocilia and the prevention of ePHL.
Title: Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.
In Usher syndrome 1G, 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.
Title: Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
USH1G (Sans) form the upper tip-link complex in adult mice
Title: Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
Title: Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.
we examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear.
Title: Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice.
Sans may have an important role in development of the stereocilia bundles
Title: Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (6) 1 citation
Targeted (2) 1 citation
Endonuclease-mediated (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:491863

Ush1g (e-PCR), detects polymorphism
- UniSTS:516724

Ush1g (e-PCR), detects polymorphism
- UniSTS:548049

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in equilibrioception	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
involved_in regulation of clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of light stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Cajal body	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary base	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in photoreceptor cell cilium	ISO Inferred from Sequence Orthology more info
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pre-mRNA splicing regulator USH1G

Names: Usher syndrome 1G homolog; jackson shaker protein; scaffold protein containing ankyrin repeats and SAM domain; scaffold protein, amkyrin repeats and SAM domain containing; scaffold protein, ankyrin repeats and SAM domain containing; usher syndrome type-1G protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_176847.3 → NP_789817.1 pre-mRNA splicing regulator USH1G

See identical proteins and their annotated locations for NP_789817.1

Status: REVIEWED

Source sequence(s)

AL603828

Consensus CDS

CCDS25627.1

UniProtKB/Swiss-Prot

Q80T11, Q80UG0

UniProtKB/TrEMBL

Q0VBT9

Related

ENSMUSP00000099326.5, ENSMUST00000103037.5

Conserved Domains (4) summary

cd09586
Location:388 → 453

SAM_USH1G; SAM domain of USH1G

sd00045
Location:31 → 62

ANK; ANK repeat [structural motif]

pfam12796
Location:38 → 117

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:5 → 52

Ank_4; Ankyrin repeats (many copies)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

115206018..115214239 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017314300.3 → XP_017169789.1 pre-mRNA splicing regulator USH1G isoform X1

Conserved Domains (1) summary

cd09586
Location:285 → 350

SAM_USH1G; SAM domain of USH1G