InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLRN1

Summary

InnateDB Protein

IDBP-61322.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CLRN1

Protein Name

clarin 1

Synonyms

RP61; USH3; USH3A;

Species

Homo sapiens

Ensembl Protein

ENSP00000295911

InnateDB Gene

IDBG-61320 (CLRN1)

Protein Structure

UniProt Annotation

Function

May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina. {ECO:0000269PubMed:12080385}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Usher syndrome 3A (USH3A) [MIM:276902]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. {ECO:0000269PubMed:11524702, ECO:0000269PubMed:12080385, ECO:0000269PubMed:12145752, ECO:0000269PubMed:15521980, ECO:0000269PubMed:18273898}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa 61 (RP61) [MIM:614180]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:21310491}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Found in the retina.

Comments

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