About   Help   FAQ
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

Gene Tree: Ush1g

Human
homologs
Human Homolog USH1G, Usher syndrome 1G (autosomal recessive)
NCBI Gene ID 124590
neXtProt AC  NX_Q495M9
Human Synonyms  ANKS4A, SANS
Human Chr (Location)  17q25.1; chr17:74916084-74923263 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human USH1G
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Spontaneous(4) 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 Using Mouse Ush1g (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Ush1g interacts with 215 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process equilibrioception, inner ear morphogenesis, ...
Component actin cytoskeleton, cytoplasm, ...
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)   
Theiler Stages: 15, 20, 23, 25, 27, 28
Assay TypeResults
RNA in situ 3
RT-PCR 28
cDNA source data(5)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(7) cDNA(5) Primer pair(2)
Microarray probesets(1)
Other database
links
VEGA Gene ModelOTTMUSG00000003746 (Evidence)
Ensembl Gene ModelENSMUSG00000045288 (Evidence)
Entrez Gene16470 (Evidence)
UniGene451539
DFCITC1595524
DoTSDT.101347890
NIA Mouse Gene IndexU149435
Consensus CDS ProjectCCDS25627.1
International Mouse Knockout Project StatusUsh1g
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(22) RefSeq(6) 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:209073 Zou J, et al., Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum Mol Genet. 2014 May 1;23(9):2374-90
All references(45)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/16/2014
MGI 5.19
The Jackson Laboratory