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Ush1g
Gene Detail
Symbol

Name
ID
Ush1g
Usher syndrome 1G
MGI:2450757
Synonyms
js, Sans
Feature Type
protein coding gene
Genetic Map
Chromosome 11
80.84 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr11:115315192-115322041 bp, - strand
From VEGA annotation of GRCm38

  6850 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56113  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: USH1G
Gene Tree: Ush1g

Human
homologs
USH1G, Usher syndrome 1G (autosomal recessive)
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 124590
neXtProt AC: NX_Q495M9

Human Synonyms: ANKS4A, SANS

Human Chr (Location): 17q25.1; chr17:74916083-74923263 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human USH1G

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Spontaneous(5) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mutant homozygotes exhibit hyperactivity, head-tossing, circling behavior and profound deafness. Structurally, mutants display disorganized stereocilia of outer ear hair cells and degeneration of inner ear neuroepithelia.
 
Human Diseases Modeled in Mice Using Ush1g (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Ush1g interacts with 214 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process equilibrioception, inner ear morphogenesis, ...
Component actin cytoskeleton, ciliary basal body, ...
Function protein binding, protein homodimerization activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (31)    Tissues (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 3
RT-PCR 28
cDNA source data(5)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(7) cDNA(5) Primer pair(2)
Microarray probesets(1)
Other database
links
VEGA Gene Model OTTMUSG00000003746 (Evidence)
Ensembl Gene Model ENSMUSG00000045288 (Evidence)
Entrez Gene 16470 (Evidence)
UniGene 451539
DFCI TC1595524
DoTS DT.101347890
NIA Mouse Gene Index U149435
Consensus CDS Project CCDS25627.1
International Mouse Phenotyping Consortium Status Ush1g
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003746 VEGA Gene Model | MGI Sequence Detail 6850 C57BL/6J ±  kb
transcript OTTMUST00000008174 VEGA | MGI Sequence Detail 3306 Not Applicable 
polypeptide OTTMUSP00000003981 VEGA | MGI Sequence Detail 461 Not Applicable 

For the selected sequences
All sequences(20) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(47 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR001660 Sterile alpha motif domain
InterPro IPR013761 Sterile alpha motif/pointed domain
InterPro IPR021129 Sterile alpha motif, type 1
Protein Ontology PR:000017140 usher syndrome type-1G protein
References
(Earliest) J:13462 Dickie MM, et al., Jackson shaker, js. Mouse News Lett. 1967;36:39
(Latest) J:218725 Cosgrove D, et al., Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol. 2014 Jan;46:80-9
All references(47)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-11532, MGI:96641

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory