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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: USH1C
Gene Tree: Ush1c

Human
homologs
USH1C, Usher syndrome 1C
Orthology source: HGNC, HomoloGene

IDs:
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.p2

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 in Mice Using Ush1c (2)    Mutations Annotated to Human Diseases (4)   
Interactions
Ush1c interacts with 93 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process actin filament bundle assembly, auditory receptor cell differentiation, ...
Component apical part of cell, brush border, ...
Function actin filament binding, myosin tail 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)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 10
RNA in situ 1
Western blot 8
RT-PCR 11
cDNA source data(3)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ush1c    NEW 
Molecular
reagents
All nucleic(4) cDNA(3) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000025998 (Evidence)
Ensembl Gene Model ENSMUSG00000030838 (Evidence)
Entrez Gene 72088 (Evidence)
DFCI TC1585702, TC1595345
DoTS DT.101361011, DT.101361012, DT.103560300, DT.40171337
NIA Mouse Gene Index U028552
PDB 1V6B
Consensus CDS Project CCDS21276.1, CCDS39963.1, CCDS52250.1
International Mouse Phenotyping Consortium Status Ush1c
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(63) RefSeq(10) UniProt(7)
Polymorphisms
SNPs within 2kb(606 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR030237 Harmonin
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:212327 Crawley SW, et al., Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. Cell. 2014 Apr 10;157(2):433-46
All references(65)
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
08/25/2015
MGI 6.0
The Jackson Laboratory