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 rhesus macaque; 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, ush1cpst
Human Chr (Location)		11p14.3; chr11:17515442-17565963 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human USH1C

Alleles and phenotypes

All alleles(9) : Targeted(6) Spontaneous(3)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	actin filament bundle assembly, auditory receptor cell differentiation, ...
Component	apical part of cell, cytoplasm, ...
Function	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 Type	Results
Immunohistochemistry	10
RNA in situ	1
Western blot	8
RT-PCR	11

cDNA source data(3)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Ush1c

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025998	VEGA Gene Model | MGI Sequence Detail	43154	C57BL/6J
transcript	OTTMUST00000064135	VEGA | MGI Sequence Detail	3072	Not Applicable
polypeptide	OTTMUSP00000031809	VEGA | MGI Sequence Detail	910	Not Applicable

All sequences(59) RefSeq(6) UniProt(7)

Polymorphisms

SNPs(445 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193334 Xiong W, et al., TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012 Dec 7;151(6):1283-95
All references(57)