CLRN1

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

CLRN1
Identifiers
Aliases	CLRN1, RP61, USH3, USH3A, clarin 1
External IDs	OMIM: 606397; MGI: 2388124; HomoloGene: 17738; GeneCards: CLRN1; OMA:CLRN1 - orthologs
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 right adrenal cortex buccal mucosa cell testicle left adrenal cortex gonad jejunal mucosa duodenum skin of hip blood pituitary gland Top expressed in otolith organ utricle otic vesicle spinal ganglia lens auditory system organ of Corti dentate gyrus of hippocampal formation granule cell spiral ganglion epithelium of lens 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
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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]