CLRN1

CLRN1
Identifiers
Aliases	CLRN1 , RP61, USH3, USH3A, clarin 1
External IDs	OMIM: 606397 MGI: 2388124 HomoloGene: 17738 GeneCards: CLRN1
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q25.1 Start 150,926,163 bp [1] End 150,972,727 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3|3 D Start 58,751,449 bp [2] End 58,792,761 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa duodenum blood pituitary gland metanephros Achilles tendon endometrium anterior pituitary myometrium monocyte Top expressed in otolith organ utricle spinal ganglia mirror organ of Corti spiral ganglion spermatocyte spermatid neural tube rhombencephalon More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 7401 229320 Ensembl ENSG00000163646 ENSMUSG00000043850 UniProt P58418 Q8K445 RefSeq (mRNA) NM_001195794 NM_001256819 NM_052995 NM_174878 NM_174880 NM_153384 NM_153385 NM_153386 RefSeq (protein) NP_001182723 NP_001243748 NP_443721 NP_777367 NP_700433 NP_700434 NP_700435 Location (UCSC) Chr 3: 150.93 – 150.97 Mb Chr 3: 58.75 – 58.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Clarin-1 is a protein that in humans is encoded by the CLRN1 gene. ^{[5] [6] [7]}

Function

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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000163646 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000043850 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A (May 1995). "Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q". Hum Mol Genet. 4 (1): 93–8. doi:10.1093/hmg/4.1.93. PMID   7711740.
6. Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kaariainen H, Brown S, Chapelle A, Sankila EM (Mar 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. doi:10.1006/geno.1996.0626. PMID   8975700.
7. "Entrez Gene: CLRN1 clarin 1".

Further reading

• 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. doi:10.1086/302438. PMC   1378101 . PMID   10364543.
• 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.
• 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. doi:10.1086/323610. PMC   1226054 . PMID   11524702.
• 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.
• 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. doi:10.1086/342098. PMC   449697 . PMID   12145752.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• 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. doi:10.1136/jmg.40.10.767. PMC   1735287 . PMID   14569126.
• 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. PMC   528928 . PMID   15489334.
• 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. S2CID   44517424.
• 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. S2CID   32183013.

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
• Human CLRN1 genome location and CLRN1 gene details page in the UCSC Genome Browser .