CLRN1

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Clarin 1
Identifiers
Symbols CLRN1 ; RP61; USH3; USH3A
External IDs OMIM606397 MGI2388124 HomoloGene17738 GeneCards: CLRN1 Gene
Orthologs
Species Human Mouse
Entrez 7401 229320
Ensembl ENSG00000163646 ENSMUSG00000043850
UniProt P58418 Q8K445
RefSeq (mRNA) NM_001195794 NM_153384
RefSeq (protein) NP_001182723 NP_700433
Location (UCSC) Chr 3:
150.64 – 150.69 Mb
Chr 3:
58.84 – 58.89 Mb
PubMed search [1] [2]

Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.[1][2][3]

Function[edit]

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.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: CLRN1 clarin 1". 

Further reading[edit]

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