About   Help   FAQ
Ush1g Gene Detail
Summary
  • Symbol
    Ush1g
  • Name
    Usher syndrome 1G
  • Synonyms
    js, Sans
  • Feature Type
    protein coding gene
  • IDs
    MGI:2450757
    NCBI Gene: 16470
  • Gene Overview
    MyGene.info: USH1G
Location & Maps
more
  • Sequence Map
    Chr11:115315192-115322041 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6850 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    USH1G, USH1 protein network component sans
  • Vertebrate Orthologs
    9
  • Human Ortholog
    USH1G, USH1 protein network component sans
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ANKS4A, SANS
  • Links
    NCBI Gene ID: 124590
    neXtProt AC: NX_Q495M9

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

Human Diseases
more
  • Diseases
    1 with Ush1g mouse models; 1 with human USH1G associations

Human Disease Mouse Models
       Usher Syndrome, Type IG; USH1G   OMIM: 606943 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 6 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Spontaneous
    5
  • Targeted
    3
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    48 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000017140 Usher syndrome type-1G protein
  • InterPro Domains
    IPR002110 Ankyrin repeat
    IPR020683 Ankyrin repeat-containing domain
    IPR001660 Sterile alpha motif domain
    IPR013761 Sterile alpha motif/pointed domain
Molecular
Reagents
less
  • All nucleic 7
    cDNA 5
    Primer pair 2

    Microarray probesets 1
Other
Accession IDs
less
MGD-MRK-11532, MGI:96641
References
more
  • Summaries
    All 44
    Developmental Gene Expression 4
    Diseases 4
    Gene Ontology 12
    Phenotypes 19
  • 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

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
04/19/2016
MGI 6.03
The Jackson Laboratory