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 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; chr17:72912176-72919351 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human USH1G

Alleles and phenotypes

All alleles(7) : Targeted(3) Spontaneous(4)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (15 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 (23)   
Theiler Stages: 15, 20, 23, 25, 28

Assay Type	Results
RNA in situ	3
RT-PCR	28

cDNA source data(5)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Ush1g

Sequences

Length	Strain/Species
genomic	OTTMUSG00000003746	VEGA Gene Model | MGI Sequence Detail	6850	C57BL/6J
transcript	OTTMUST00000008174	VEGA | MGI Sequence Detail	3306	Not Applicable
polypeptide	OTTMUSP00000003981	VEGA | MGI Sequence Detail	461	Not Applicable

All sequences(18) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(20 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:183898 Zheng QY, et al., Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet. 2012 Jun 1;21(11):2588-98
All references(43)

Other accession IDs

MGD-MRK-11532, MGI:96641