Gene

ush1c

ID

ZDB-GENE-060312-41

Name

Usher syndrome 1C

Symbol

ush1c Nomenclature History

Previous Names

harmonin
zgc:136806

Type

protein_coding_gene

Location

Chr: 25 Mapping Details/Browsers

Description

Predicted to have actin filament binding activity. Involved in neuron development; startle response; and synapse organization. Predicted to colocalize with photoreceptor connecting cilium and photoreceptor inner segment. Used to study Usher syndrome. Human ortholog(s) of this gene implicated in Usher syndrome; Usher syndrome type 1; Usher syndrome type 1C; and autosomal recessive nonsyndromic deafness 18A. Is expressed in brain; hair cell; pleuroperitoneal region; sensory system; and trunk musculature. Orthologous to human USH1C (USH1 protein network component harmonin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 7 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ush1c Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive nonsyndromic deafness 18A	Alliance	Deafness, autosomal recessive 18A	602092
Usher syndrome type 1C	Alliance	Usher syndrome, type 1C	276904

Associated With ush1c Via Experimental Models

Human Disease	Fish	Conditions	Citations
Usher syndrome	AB + MO1-ush1c	standard conditions	Phillips et al., 2011
Usher syndrome	WT + MO1-ush1c	standard conditions	Phillips et al., 2011
Usher syndrome	ush1c^fh293/fh293	standard conditions	Phillips et al., 2011

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001478	PDZ domain
Domain	IPR030237	Harmonin, N-terminal
Family	IPR051844	Sensory Perception USH2 Complex Protein
Homologous_superfamily	IPR036034	PDZ superfamily

Domain Details Per Protein

Protein	Length	Harmonin, N-terminal	PDZ domain	PDZ superfamily	Sensory Perception USH2 Complex Protein
UniProtKB:A0A8M3AZQ5 InterPro	586
UniProtKB:Q29RC0 InterPro	548

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	ush1c-201 (1) Ensembl	Ensembl	1,915 nt	Select Tool
mRNA	ush1c-202 (1) Ensembl	Ensembl	975 nt	Select Tool
mRNA	ush1c-203 (1) Ensembl	Ensembl	977 nt	Select Tool
mRNA	ush1c-204 (1) Ensembl	Ensembl	1,699 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-ush1c	polyclonal	ush1c		Rabbit	IHC		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations