Ush1c - USH1 protein network component harmonin Gene

Mus musculus

Also known as harmonin; 2010016F01Rik

Gene ID: 72088 | Gene type: protein coding

About Ush1c

Summary

Predicted to enable Myosin tail binding activity and spectrin binding activity. Involved in brush border assembly; protein localization to microvillus; and regulation of microvillus length. Acts upstream of or within several processes, including inner ear development; parallel actin filament bundle assembly; and sensory perception of sound. Located in several cellular components, including brush border; photoreceptor inner segment; and upper tip-link density. Is expressed in several structures, including alimentary system; cochlea; genitourinary system; heart; and lung epithelium. Used to study Usher syndrome type 1C and autosomal recessive nonsyndromic deafness 18A. Human ortholog(s) of this gene implicated in Usher syndrome; Usher syndrome type 1; Usher syndrome type 1C; and autosomal recessive nonsyndromic deafness 18A. Orthologous to human USH1C (USH1 protein network component harmonin). [provided by Alliance of Genome Resources, Apr 2022]

Ush1c Products(4)

mRNA	Protein	Name
NM_001163733.1	NP_001157205.1	harmonin isoform b4
NM_001291182.1	NP_001278111.1	harmonin isoform b2
NM_023649.2	NP_076138.2	harmonin isoform a1
NM_153677.2	NP_710143.2	harmonin isoform b3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12485990	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within actin filament bundle assembly	IDA IDA: Inferred from direct assay	12485990	MGI
involved in brush border assembly	IMP IMP: Inferred from mutant phenotype	24725409	MGI
acts upstream of or within inner ear auditory receptor cell differentiation	IMP IMP: Inferred from mutant phenotype	14519688	MGI
acts upstream of or within inner ear morphogenesis	IMP IMP: Inferred from mutant phenotype	14519688	MGI
acts upstream of or within inner ear receptor cell stereocilium organization	IMP IMP: Inferred from mutant phenotype	18339676	MGI
acts upstream of or within neuromuscular process controlling balance	IMP IMP: Inferred from mutant phenotype	14519688	MGI
acts upstream of or within parallel actin filament bundle assembly	IDA IDA: Inferred from direct assay	12485990	MGI
involved in protein localization to microvillus	IMP IMP: Inferred from mutant phenotype	24725409	MGI
involved in regulation of microvillus length	IMP IMP: Inferred from mutant phenotype	24725409	MGI
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	14519688	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in brush border	IDA IDA: Inferred from direct assay	22114352	MGI
located in microvillus	IDA IDA: Inferred from direct assay	24725409	MGI
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	14578428	MGI
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	14578428	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	15461667	MGI
is active in stereocilium	EXP EXP: Inferred from Experiment	26754646	MGI
located in stereocilium	IDA IDA: Inferred from direct assay	12485990	MGI
located in synapse	IDA IDA: Inferred from direct assay	14578428	MGI
located in upper tip-link density	IDA IDA: Inferred from direct assay	31448880	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

harmonin

PDZ domain-containing protein	Usher syndrome 1C homolog
usher syndrome type-1C protein homolog

Ush1c Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Ush1c	Q9ES64	Pcdh15	Mus musculus	Q99PJ1	Pull Down	15590703
Intra	Ush1c	Q9ES64	Pcdh15	Mus musculus	Q99PJ1	Y2H	15928608

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15516	USH1C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21076	Ush1c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27593	Ush1c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Ush1c	NCBI	NCBI:10083

Name
Email *

	Sorry, but the email address you supplied was invalid.