clarin 1

Summary
Gene Symbol
  • CLRN1
Organism
Homo sapiens (human)
NCBI Gene
7401
PubChem
7401
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • Glycoprotein
  • Hearing
  • Reference proteome
  • Retinitis pigmentosa
  • Transmembrane helix
  • Usher syndrome
  • Vision
Proteins
Displaying 1 entry
UniProt Protein Name
P58418
  • Usher syndrome type-3 protein
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 7 in total
GO Term Evidence Code PMID
basal part of cell
microvillus
plasma membrane
stereocilium
lamellipodium
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
OrthoDB (Group)
Group level
Eukaryota
Group Name
Uncharacterized protein
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
Displaying 1 entry
Gene Ontology
sensory perception of sound
Displaying 1 entry
InterPro
Clarin
Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0050439 Usher syndrome
DOID:0110373 retinitis pigmentosa 61
DOID:0110828 Usher syndrome type 3
DOID:0110841 Usher syndrome type 3A
DOID:10584 retinitis pigmentosa

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024