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Ush1c
Gene Detail
 Symbol
Name
ID
Ush1c
Usher syndrome 1C
MGI:1919338
Synonyms 2010016F01Rik, harmonin
Feature Type protein coding gene
Genetic Map
Chromosome 7
29.66 cM, cytoband B3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr7:46195350-46238503 bp, - strand
From VEGA annotation of GRCm38

  43154 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:77476  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ush1c

Human
homologs
Human Homolog USH1C, Usher syndrome 1C (autosomal recessive, severe)
NCBI Gene ID 10083
neXtProt AC  NX_Q9Y6N9
Human Synonyms  AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ73, PDZ-73, PDZ-73/NY-CO-38, PDZD7C, ush1cpst
Human Chr (Location)  11p14.3; chr11:17493895-17544416 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human USH1C
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Spontaneous(3) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling.
 
Human Diseases Modeled Using Mouse Ush1c (2)    Alleles Annotated to Human Diseases(4)   
Interactions
Ush1c interacts with 93 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process actin filament bundle assembly, auditory receptor cell differentiation, ...
Component apical part of cell, cytoplasm, ...
Function myosin tail binding, protein binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (30)    Tissues (19)    Images (1)
Theiler Stages: 22, 25, 28
Assay TypeResults
Immunohistochemistry 10
RNA in situ 1
Western blot 8
RT-PCR 11
cDNA source data(3)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(4) cDNA(3) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000025998 (Evidence)
Ensembl Gene ModelENSMUSG00000030838 (Evidence)
Entrez Gene72088 (Evidence)
DFCITC1585702, TC1595345
DoTSDT.101361011, DT.101361012, DT.103560300, DT.40171337
NIA Mouse Gene IndexU028552
PDB1V6B
Consensus CDS ProjectCCDS21276.1, CCDS39963.1, CCDS52250.1
International Mouse Knockout Project StatusUsh1c
Sequences
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 sequences
All sequences(65) RefSeq(12) UniProt(7)
Polymorphisms SNPs within 2kb(606 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001478 PDZ domain
Protein Ontology PR:000017139 harmonin
References (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:210872 Gregory FD, et al., Harmonin enhances voltage-dependent facilitation of Cav1.3 channels and synchronous exocytosis in mouse inner hair cells. J Physiol. 2013 Jul 1;591(Pt 13):3253-69
All references(60)
Disease annotation references (4)

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
07/23/2014
MGI 5.19
The Jackson Laboratory