Homo sapiens Gene: CLRN1
Summary
InnateDB Gene IDBG-61320.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CLRN1
Gene Name clarin 1
Synonyms RP61; USH3; USH3A
Species Homo sapiens
Ensembl Gene ENSG00000163646
Encoded Proteins
clarin 1
clarin 1
clarin 1
clarin 1
clarin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:150926163-150972999
Strand Reverse strand
Band q25.1
Transcripts
ENST00000295911 ENSP00000295911
ENST00000327047 ENSP00000322280
ENST00000328863 ENSP00000329158
ENST00000468836 ENSP00000419892
ENST00000485607 ENSP00000419244
ENST00000472224
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007015 actin filament organization
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0010592 positive regulation of lamellipodium assembly
GO:0045494 photoreceptor cell maintenance
GO:0048870 cell motility
GO:0050896 response to stimulus
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
Cellular Component
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0016021 integral component of membrane
GO:0030027 lamellipodium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_001195794 NM_052995 NM_174878
HUGO
OMIM
CCDS CCDS3153 CCDS35492 CCDS56285
HPRD 05905
IMGT
EMBL
GenPept
RNA Seq Atlas