USH1C USH1 protein network component harmonin [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: USH1Cprovided by VGNC
Official Full Name: USH1 protein network component harmoninprovided by VGNC
Primary source: VGNC:VGNC:48172
See related: Ensembl:ENSCAFG00845014411
Gene type: protein coding
RefSeq status: MODEL
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	21	NC_051825.1 (41161015..41205900, complement)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	21	NC_006603.4 (39555651..39600543, complement)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	21	NC_049242.1 (40719734..40764634, complement)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	21	NC_049281.1 (40173714..40218550, complement)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	21	NC_049762.1 (40380893..40425786, complement)

Chromosome 21 - NC_051825.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables protein binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info	PubMed
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info	PubMed
involved_in inner ear receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info	PubMed
involved_in retinal cone cell development	IEA Inferred from Electronic Annotation more info	PubMed
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in cilium	IEA Inferred from Electronic Annotation more info	PubMed
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed
part_of stereocilia ankle link complex	IEA Inferred from Electronic Annotation more info	PubMed
located_in stereocilium tip	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: harmonin

Names: Usher syndrome 1C (autosomal recessive, severe)

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...

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

Reference ROS_Cfam_1.0

Genomic

NC_051825.1 Reference ROS_Cfam_1.0

Range

41161015..41205900 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038430637.1 → XP_038286565.1 harmonin

UniProtKB/TrEMBL

A0A8C0PCH4, A0A8I3NTK1

Related

ENSCAFP00845020376.1, ENSCAFT00845025859.1

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

pfam13904
Location:301 → 375

DUF4207; Domain of unknown function (DUF4207)

Alternate UMICH_Zoey_3.1

Genomic

NC_049281.1 Alternate UMICH_Zoey_3.1

Range

40173714..40218550 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038505963.1 → XP_038361891.1 harmonin

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

pfam13904
Location:301 → 375

DUF4207; Domain of unknown function (DUF4207)

Alternate UNSW_CanFamBas_1.0

Genomic

NC_049762.1 Alternate UNSW_CanFamBas_1.0

Range

40380893..40425786 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038633377.1 → XP_038489305.1 harmonin

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

pfam13904
Location:301 → 375

DUF4207; Domain of unknown function (DUF4207)

Alternate UU_Cfam_GSD_1.0

Genomic

NC_049242.1 Alternate UU_Cfam_GSD_1.0

Range

40719734..40764634 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_038569185.1 → XP_038425113.1 harmonin

UniProtKB/TrEMBL

A0A8C0PCH4, A0A8I3NTK1

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

pfam13904
Location:301 → 375

DUF4207; Domain of unknown function (DUF4207)

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

NC_006603.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

Range

39555651..39600543 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_014122770.3 → XP_013978245.1 harmonin

UniProtKB/TrEMBL

A0A8C0PCH4, A0A8I3NTK1

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

pfam13904
Location:301 → 375

DUF4207; Domain of unknown function (DUF4207)