CLRN1
Sign in to saveAlso known as RP61, USH3, USH3A, clarin 1
Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.
Gene data
CLRN1- Name
- clarin 1
- Type
- protein-coding
- Aliases
- RP61, USH3, USH3A
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].
via MyGene.info
Gene · Ensembl
clarin 1
- Symbol
- CLRN1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:150,926,163-150,972,727
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 17738
- exact match
- identifiers.org/ncbigene/7401
- genomic start
- 150643950
- genomic end
- 150972727
- cytogenetic location
- 3q25.1
Sources (4)
via Wikidata · CC0
~1 min read
Article
4 sectionsContents
- Function
- References
- Further reading
- External links
Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.
== Function ==
Connections
Q180686
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human chromosome 3
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Ensembl genome database project
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protein
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Wikidata
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gene
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chromosome
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digital object identifier
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endoplasmic reticulum
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bibcode
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human genome
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Q229883
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base pair
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locus
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gene expression
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Online Mendelian Inheritance in Man
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Q22908627
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N-terminus
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C-terminus
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Entrez
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