Identity
HGNC
LOCATION
11p15.1
LOCUSID
ALIAS
AIE-75,DFNB18,DFNB18A,NY-CO-37,NY-CO-38,PDZ-45,PDZ-73,PDZ-73/NY-CO-38,PDZ73,PDZD7C,ush1cpst
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10083
MIM: 605242
HGNC: 12597
Ensembl: ENSG00000006611
Variants:
dbSNP: 10083
ClinVar: 10083
TCGA: ENSG00000006611
COSMIC: USH1C
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35997788 | 2023 | Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. | 5 |
| 35997788 | 2023 | Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy. | 5 |
| 33231815 | 2020 | Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss. | 1 |
| 33231815 | 2020 | Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss. | 1 |
| 31644917 | 2019 | Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. | 22 |
| 31644917 | 2019 | Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. | 22 |
| 28031293 | 2017 | The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells. | 29 |
| 28439001 | 2017 | Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins. | 26 |
| 28653419 | 2017 | Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery. | 6 |
| 28660889 | 2017 | Myosin 7 and its adaptors link cadherins to actin. | 33 |
| 28031293 | 2017 | The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells. | 29 |
| 28439001 | 2017 | Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins. | 26 |
| 28653419 | 2017 | Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery. | 6 |
| 28660889 | 2017 | Myosin 7 and its adaptors link cadherins to actin. | 33 |
| 26812017 | 2016 | Mechanistic Basis of Organization of the Harmonin/USH1C-Mediated Brush Border Microvilli Tip-Link Complex. | 27 |
Citation
Dessen P
USH1C (USH1 protein network component harmonin)
Atlas Genet Cytogenet Oncol Haematol. 2013-01-01
Online version: http://atlasgeneticsoncology.org/gene/53128/ush1c
