CLRN1

GENE INFORMATION

? »

Gene name

CLRN1 (HGNC Symbol)

Synonyms

USH3, USH3A

Description

Clarin 1 (HGNC Symbol)

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]

Chromosome

3

Cytoband

q25.1

Chromosome location (bp)

150643950 - 150690786

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163646 (version 75.37)

Entrez gene

7401

UniProt

P58418 (UniProt - Evidence at protein level)

neXtProt

NX_P58418

Antibodypedia

CLRN1 antibodies
 

PROTEIN VIEW

? »
 
 
 
CLRN1-001
 
CLRN1-002
 
CLRN1-003
 
CLRN1-005
 
CLRN1-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CLRN1-001 ENSP00000322280
ENST00000327047
P58418
Show all »
Show » Show » 232 25.7 No 3
CLRN1-002 ENSP00000419244
ENST00000485607
C9JWF3
Show all »
Show » 39 4.2 No 0
CLRN1-003 ENSP00000295911
ENST00000295911
P58418
Show all »
Show » Show » 120 13.4 No 2
CLRN1-005 ENSP00000419892
ENST00000468836
C9JYI2
Show all »
Show » 115 12.9 No 2
CLRN1-201 ENSP00000329158
ENST00000328863
P58418
Show all »
Show » Show » 245 27.2 No 3