Property Summary

NCBI Gene PubMed Count 28
Grant Count 5
R01 Count 5
Funding $847,782
PubMed Score 47.78
PubTator Score 49.36

Knowledge Summary

Patent

No data available

Synonym

Accession P58418 D3DNJ3 E1ACU9 Q8N6A9
Symbols RP61
USH3
USH3A

Gene

Gene RIF (15)

PMID Text
25743179 This is the first report of Usher syndrome type 3 with a CLRN1 gene mutation in Asian populations.
23304067 Two novel mutations in the CLRN1 gene, p.R207X and p.I168N, have been found in patients with Usher syndrome type 3.
22964989 High-resolution measures of retinal structure demonstrate patterns of cone loss associated with CLRN1 mutations.
22787034 This study confirmed using a novel mouse model carrying a Clrn1N48K knock-in mutation to investigate the consequence of the missense mutation N48K in mCLRN1 in vivo.
22681893 Possible digenism could not be excluded in two families segregating genomic variations in both MYO7A and USH2A, and two families with CLRN1 and USH2A.
21675857 Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.
21310491 Retinitis pigmentosa-associated mutations p.Pro31Leu and p.Leu154Trp may represent hypomorphic mutations, because substituted amino acids in transmembrane domains remain polar.
20717163 The complexity of the CLRN1 gene and the identification of multiple splice variants may partially explain why mutations in CLRN1 result in substantial variation in clinical phenotype.
19753315 Part of the pathogenesis of USH3 may be associated with defective intracellular trafficking as well as decreased stability of mutant CLRN1 proteins.
19683999 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
More...

AA Sequence

MPSQQKKIIFCMAGVFSFACALGVVTALGTPLWIKATVLCKTGALLVNASGQELDKFMGEMQYGLFHGEG      1 - 70
VRQCGLGARPFRFSFFPDLLKAIPVSIHVNVILFSAILIVLTMVGTAFFMYNAFGKPFETLHGPLGLYLL     71 - 140
SFISGSCGCLVMILFASEVKIHHLSEKIANYKEGTYVYKTQSEKYTTSFWVIFFCFFVHFLNGLLIRLAG    141 - 210
FQFPFAKSKDAETTNVAADLMY                                                    211 - 232
//

Text Mined References (29)

PMID Year Title
25743179 2015 Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
23304067 2012 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
22964989 2013 Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.
22787034 2012 The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
22681893 2013 Extended mutation spectrum of Usher syndrome in Finland.
21675857 2011 A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
21310491 2011 CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
20717163 2011 Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).
19753315 2009 Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
More...