Ush1c USH1 protein network component harmonin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ush1cprovided by MGI
Official Full Name: USH1 protein network component harmoninprovided by MGI
Primary source: MGI:MGI:1919338
See related: Ensembl:ENSMUSG00000030838 AllianceGenome:MGI:1919338
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: harmonin; 2010016F01Rik
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]
Expression: Biased expression in large intestine adult (RPKM 31.9), colon adult (RPKM 22.1) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.66 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45844774..45887984, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (46195350..46238490, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

under normal housing conditions, Ush1g(-/-) and Ush1c(-/-) albino mice have dysfunctional cone photoreceptors whereas pigmented knockout animals have normal photoreceptors.
Title: Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.
Harmonin enhances voltage-dependent facilitation of Cav1.3 channels and synchronous exocytosis in mouse inner hair cells.
Title: Harmonin enhances voltage-dependent facilitation of Cav1.3 channels and synchronous exocytosis in mouse inner hair cells.
MYO7A, USH1G (Sans) and CDH23 form the upper tip-link complex in adult mice, likely in combination with USH1C (harmonin).
Title: Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.
examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear
Title: Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice.
Cadherin-23, myosin VIIa and harmonin form a ternary complex and interact with phospholipids.
Title: Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.
The fact that Ush1c expression is much higher in the ear than in the eye suggests a different role for Ush1c in ear function than in the eye and may explain why Ush1c mutant mice do not recapitulate vision defects.
Title: Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse.
harmonin-b operates as an intracellular link that limits adaptation and engages adaptation motors
Title: Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells.
harmonin is a upper tip-link density component and contributes to establishing the sensitivity of mechanotransduction channels to displacement.
Title: Harmonin mutations cause mechanotransduction defects in cochlear hair cells.
forms a complex with cadherin 23 by means of PDZ-domain interactions
Title: The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.
Homozygous Ush1c216A (216AA) mice are hyperactive, display circling and head tossing behavior, and do not have a Preyer reflex at 21-25 days old.
Title: Ush1c216A knock-in mouse survives Katrina.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (4) 1 citation
Targeted (6) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ush1c (e-PCR), detects polymorphism
- UniSTS:548048

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables myosin tail binding	ISO Inferred from Sequence Orthology more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables spectrin binding	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in G2/M transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in auditory receptor cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in brush border assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brush border assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in equilibrioception	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within inner ear auditory receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear receptor cell stereocilium organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within parallel actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
involved_in protein localization to microvillus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to microvillus	ISO Inferred from Sequence Orthology more info
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of microvillus length	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal cone cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of light stimulus	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor inner segment	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of stereocilia ankle link complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in stereocilium	EXP Inferred from Experiment more info	PubMed
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	ISO Inferred from Sequence Orthology more info
is_active_in stereocilium tip	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in upper tip-link density	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: harmonin

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001163733.1 → NP_001157205.1 harmonin isoform b4

Status: VALIDATED

Description

Transcript Variant: This variant (b4) has an additional segment in the 3' coding region, resulting in frame-shift, as compared to variant b3. The resulting isoform (b4) is shorter and has a different C-terminus, as compared to isoform b3.

Source sequence(s)

AC120135, AF228925, AY246556, BP775197, BY708209

Consensus CDS

CCDS52250.1

UniProtKB/TrEMBL

E9PYX1, Q6XA19

Related

ENSMUSP00000114494.3, ENSMUST00000154292.9

Conserved Domains (3) summary

cd00992
Location:85 → 165

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:2 → 80

harmonin_N; N-terminal protein-binding module of harmonin

pfam03879
Location:309 → 358

Cgr1; Cgr1 family
NM_001291182.1 → NP_001278111.1 harmonin isoform b2

Status: VALIDATED

Description

Transcript Variant: This variant (b2) uses an alternate splice junction at the 5' end of an exon compared to variant b3, that causes a frameshift. The resulting isoform (b2) has a shorter and distinct C-terminus compared to isoform b3.

Source sequence(s)

AC120135

Consensus CDS

CCDS85309.1

UniProtKB/TrEMBL

D6RIM8, Q6XA19

Related

ENSMUSP00000119676.2, ENSMUST00000143155.8

Conserved Domains (4) summary

PHA03247
Location:555 → 685

PHA03247; large tegument protein UL36; Provisional

cd00992
Location:85 → 165

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:2 → 80

harmonin_N; N-terminal protein-binding module of harmonin

pfam13868
Location:301 → 358

TPH; Trichohyalin-plectin-homology domain
NM_023649.2 → NP_076138.2 harmonin isoform a1

See identical proteins and their annotated locations for NP_076138.2

Status: VALIDATED

Description

Transcript Variant: This variant (a1) differs from variant b3 in the middle coding region and in the 3' coding region. The resulting isoform (a1) is much shorter, and it lacks an internal segment and has a different C-terminus, as compared to isoform b3.

Source sequence(s)

AF228924, BP775197, BY708209

Consensus CDS

CCDS39963.1

UniProtKB/TrEMBL

A0A0R4J0Z8, H3BLC4

Related

ENSMUSP00000077747.7, ENSMUST00000078680.13

Conserved Domains (3) summary

cd00992
Location:85 → 165

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:2 → 80

harmonin_N; N-terminal protein-binding module of harmonin

pfam03879
Location:316 → 358

Cgr1; Cgr1 family
NM_153677.2 → NP_710143.2 harmonin isoform b3

Status: VALIDATED

Description

Transcript Variant: This variant (b3) encodes the longest isoform (b3).

Source sequence(s)

AC120135, AF228925, BP775197, BY708209

Consensus CDS

CCDS21276.1

UniProtKB/Swiss-Prot

Q91XD1, Q9CVG7, Q9ES64, Q9ES65

UniProtKB/TrEMBL

E9QMN1

Related

ENSMUSP00000009667.6, ENSMUST00000009667.12

Conserved Domains (3) summary

cd00992
Location:85 → 165

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:2 → 80

harmonin_N; N-terminal protein-binding module of harmonin

pfam03879
Location:309 → 358

Cgr1; Cgr1 family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

45844774..45887984 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006541212.4 → XP_006541275.1 harmonin isoform X1

UniProtKB/TrEMBL

H3BIZ2, H3BLC4

Related

ENSMUSP00000134783.2, ENSMUST00000176371.2

Conserved Domains (3) summary

cd00992
Location:54 → 134

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam17380
Location:267 → 400

DUF5401; Family of unknown function (DUF5401)

cl11968
Location:1 → 49

harmonin_N_like; N-terminal protein-binding module of harmonin and similar domains, also known as HHD (harmonin homology domain)
XM_036153453.1 → XP_036009346.1 harmonin isoform X2

Conserved Domains (3) summary

cd00992
Location:85 → 165

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd07353
Location:2 → 80

harmonin_N; N-terminal protein-binding module of harmonin

pfam17380
Location:298 → 424

DUF5401; Family of unknown function (DUF5401)