USH1C (USH1 protein network component harmonin)

2013-01-01  

Identity

HGNC
USH1C
LOCATION
11p15.1
LOCUSID
10083
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
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/case-report-explorer/tumors-explorer/