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
124859902002Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.158
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
156602262005Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.53
121074382002Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.48
121362322002Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.37
201425022010The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.37
196839992010Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.33
192976202009Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23.32
174075892007Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.15
226614632012Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination.15

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