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Ush1c Gene Detail
Summary
  • Symbol
    Ush1c
  • Name
    Usher syndrome 1C
  • Synonyms
    2010016F01Rik, harmonin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919338
    NCBI Gene: 72088
Location & Maps
more
  • Sequence Map
    Chr7:46195350-46238503 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      43154 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    USH1C, Usher syndrome 1C
  • Vertebrate Orthologs
    8
  • Human Ortholog
    USH1C, Usher syndrome 1C
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ73, PDZ-73, PDZ-73/NY-CO-38, PDZD7C, ush1cpst
  • Links
    NCBI Gene ID: 10083
    neXtProt AC: NX_Q9Y6N9

  • Chr Location
    11p14.3; chr11:17493895-17544416 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Ush1c mouse models; 3 with human USH1C associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 18a; DFNB18A   OMIM: 602092 View 2 models
Usher Syndrome, Type Ic; USH1C   OMIM: 276904 View 4 models
       Usher Syndrome, Type I; USH1   OMIM: 276900
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    57 phenotypes from 8 alleles in 10 genetic backgrounds
    26 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
    9
  • Spontaneous
    3
  • Targeted
    6
  • Incidental Mutations
Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling.
Gene Ontology
(GO)
Classifications
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  • 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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025998 VEGA Gene Model | MGI Sequence Detail 43154 C57BL/6J ±  kb
transcript OTTMUST00000064135 VEGA | MGI Sequence Detail 3072 Not Applicable  
polypeptide OTTMUSP00000031809 VEGA | MGI Sequence Detail 910 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    606 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 4
    cDNA 3
    Primer pair 1

    Microarray probesets 2
References
more
  • Summaries
    All 63
    Developmental Gene Expression 8
    Diseases 4
    Gene Ontology 17
    Phenotypes 26
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • 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
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory