CLRN1

Clarin 1
Identifiers
Symbols	CLRN1 ; USH3; USH3A
External IDs	Template:OMIM5 Template:MGI HomoloGene: 17738
Gene ontology Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Clarin 1, also known as CLRN1, is a human gene.

This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

Further reading

• Sankila EM, Pakarinen L, Kääriäinen H; et al. (1995). "Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q". Hum. Mol. Genet. 4 (1): 93–8. PMID 7711740.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Joensuu T, Blanco G, Pakarinen L; et al. (1997). "Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region". Genomics. 38 (3): 255–63. PMID 8975700.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Adato A, Kalinski H, Weil D; et al. (1999). "Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance". Am. J. Hum. Genet. 65 (1): 261–5. PMID 10364543.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Joensuu T, Hämäläinen R, Lehesjoki AE; et al. (2000). "A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q". Genomics. 63 (3): 409–16. doi:10.1006/geno.1999.6096. PMID 10704288.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Joensuu T, Hämäläinen R, Yuan B; et al. (2001). "Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3". Am. J. Hum. Genet. 69 (4): 673–84. PMID 11524702.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Adato A, Vreugde S, Joensuu T; et al. (2003). "USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses". Eur. J. Hum. Genet. 10 (6): 339–50. doi:10.1038/sj.ejhg.5200831. PMID 12080385.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fields RR, Zhou G, Huang D; et al. (2002). "Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations". Am. J. Hum. Genet. 71 (3): 607–17. PMID 12145752.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ness SL, Ben-Yosef T, Bar-Lev A; et al. (2003). "Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III". J. Med. Genet. 40 (10): 767–72. PMID 14569126.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Aller E, Jaijo T, Oltra S; et al. (2005). "Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability". Clin. Genet. 66 (6): 525–9. doi:10.1111/j.1399-0004.2004.00352.x. PMID 15521980.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Plantinga RF, Kleemola L, Huygen PL; et al. (2005). "Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients". Audiol. Neurootol. 10 (2): 79–89. doi:10.1159/000083363. PMID 15650299.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)