Property Summary

NCBI Gene PubMed Count 54
PubMed Score 115.82
PubTator Score 63.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
nephrosclerosis -1.277 1.0e-02
esophageal adenocarcinoma 1.300 2.5e-02
osteosarcoma 1.489 5.4e-03
intraductal papillary-mucinous adenoma (... 1.900 4.1e-04
intraductal papillary-mucinous carcinoma... 2.000 1.9e-04
intraductal papillary-mucinous neoplasm ... 2.100 2.3e-03
lung cancer 1.600 1.4e-02
pancreatic cancer 1.100 1.0e-04
lung carcinoma 2.900 1.4e-30
pituitary cancer -1.100 1.3e-02
psoriasis -2.000 3.2e-10

 GO Function (1)

Pathway (1)

Gene RIF (22)

PMID Text
26812017 ANKS4B, and MYO7B form a stable ternary complex for anchoring microvilli tip-link cadherins
24416283 Description of the spectrum of mutations in USHIC in 374 families with autosomal recessive, non-syndromic hearing loss from India.
24250806 harmonin and villin autoantibodies are sensitive and specific markers of IPEX, differentiate IPEX, including atypical cases, from other early childhood disorders associated with enteropathy
23665419 We localized proteins encoded by the top two regulated genes, TBL1X and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function.
23251578 This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss.
22879593 Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia
22661463 The data highlight the ability of ZFNs to induce targeted homologous recombination and mediate gene repair in USH.
22219650 Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.
21487335 We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene.
21203349 Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin.
20801516 Observational study of genetic testing. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20142502 Mutations in harmonin and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins
19683999 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
19297620 The structures of the harmonin N-domain alone and in complex with the cadherin 23 internal peptide fragment uncovered the detailed binding mechanism of this interaction between harmonin and cadherin 23.
17407589 The c.216G>A mutation within the USH1C gene has been linked to a founder effect within the French Canadian population of Quebec associated with deafblindness.
15660226 Observational study of genotype prevalence. (HuGE Navigator)
15578223 the instability of the USH1C mRNA is explained by the 216G-->A out-of-frame splice site mutation.
12485990 the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia
12136232 Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
12107438 Mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.
11810303 USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population

AA Sequence

MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKH      1 - 70
QVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGY     71 - 140
SISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEK    141 - 210
KVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKS    211 - 280
SRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAA    281 - 350
EENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDG    351 - 420
GTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAA    421 - 490
ERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF            491 - 552
//

Text Mined References (55)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26812018 2016 ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation.
26812017 2016 Mechanistic Basis of Organization of the Harmonin/USH1C-Mediated Brush Border Microvilli Tip-Link Complex.
25416956 2014 A proteome-scale map of the human interactome network.
24725409 2014 Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion.
24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
24416283 2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
24250806 2013 Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.
23704327 2013 The giant spectrin ?V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
23665419 Prenatal smoke exposure: effects on infant auditory system and placental gene expression.
23251578 2012 Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
22879593 2012 Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia.
22661463 2012 Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination.
22219650 2011 Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
21709241 2011 Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.
21487335 2011 Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.
21330445 2011 Proteomic analysis of the enterocyte brush border.
21203349 2010 Novel mutations in the USH1C gene in Usher syndrome patients.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20142502 2010 The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.
19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
19297620 2009 Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23.
18484607 2008 UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
17407589 2007 Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16464467 2006 An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C).
16301216 2005 Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
15578223 2005 The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15219944 2004 Expression of AIE-75 PDZ-domain protein induces G2/M cell cycle arrest in human colorectal adenocarcinoma SW480 cells.
14759258 2004 An unappreciated role for RNA surveillance.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12588794 2003 Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
12485990 2002 Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12407180 2002 The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.
12136232 2002 Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
12107438 2002 Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
11810303 2002 The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.
11398101 2001 Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
11311560 2001 Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75.
11139240 2001 Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
10973248 2000 A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
10973247 2000 A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
10508479 1999 Antigens recognized by autologous antibody in patients with renal-cell carcinoma.
10500064 1999 Identification of an autoimmune enteropathy-related 75-kilodalton antigen.
10209257 1999 Isoforms of the human PDZ-73 protein exhibit differential tissue expression.
9760205 1998 The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
9653658 1998 A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.
9610721 1998 Characterization of human colon cancer antigens recognized by autologous antibodies.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.