CLRN1

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CLRN1
Identifiers
Aliases CLRN1, RP61, USH3, USH3A, clarin 1
External IDs MGI: 2388124 HomoloGene: 17738 GeneCards: CLRN1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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

Location (UCSC) Chr 3: 150.93 – 150.97 Mb Chr 3: 58.84 – 58.89 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: CLRN1 clarin 1". 

Further reading[edit]

External links[edit]