CLRN1 (clarin 1)

2014-11-01  

Identity

HGNC
CLRN1
LOCATION
3q25.1
LOCUSID
7401
ALIAS
RP61,USH3,USH3A

Other Information

Locus ID:

NCBI: 7401
MIM: 606397
HGNC: 12605
Ensembl: ENSG00000163646

Variants:

dbSNP: 7401
ClinVar: 7401
TCGA: ENSG00000163646
COSMIC: CLRN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163646ENST00000295911P58418
ENSG00000163646ENST00000327047P58418
ENSG00000163646ENST00000328863P58418
ENSG00000163646ENST00000468836C9JYI2
ENSG00000163646ENST00000644099E1ACV0
ENSG00000163646ENST00000645441A0A2R8Y8A4

Expression (GTEx)

0
1
2
3
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
115247022001Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.65
120803852002USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.56
182816132008Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.38
196839992010Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.33
194237122009Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.27
121457522002Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.26
213104912011CLRN1 mutations cause nonsyndromic retinitis pigmentosa.25
227870342012The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.20
229649892013Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.16
207171632011Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).11

Citation

Dessen P

CLRN1 (clarin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61903/clrn1