USH1C (USH1 protein network component harmonin)

2013-01-01  

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

Other Information

Locus ID:

NCBI: 10083
MIM: 605242
HGNC: 12597
Ensembl: ENSG00000006611

Variants:

dbSNP: 10083
ClinVar: 10083
TCGA: ENSG00000006611
COSMIC: USH1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006611ENST00000005226Q9Y6N9
ENSG00000006611ENST00000318024Q9Y6N9
ENSG00000006611ENST00000318024A0A0S2Z4U9
ENSG00000006611ENST00000526181E9PNW1
ENSG00000006611ENST00000526313Q9Y6N9
ENSG00000006611ENST00000527020Q9Y6N9
ENSG00000006611ENST00000527020A0A0S2Z4V1
ENSG00000006611ENST00000527720Q9Y6N9

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
359977882023Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.5
359977882023Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.5
332318152020Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.1
332318152020Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.1
316449172019Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.22
316449172019Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.22
280312932017The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.29
284390012017Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins.26
286534192017Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.6
286608892017Myosin 7 and its adaptors link cadherins to actin.33
280312932017The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.29
284390012017Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins.26
286534192017Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.6
286608892017Myosin 7 and its adaptors link cadherins to actin.33
268120172016Mechanistic 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/css/gene-explorer/