optineurin

Summary
Gene Symbol
  • OPTN
Organism
Homo sapiens (human)
NCBI Gene
10133
PubChem
10133
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Amyotrophic lateral sclerosis
  • Autophagy
  • Coiled coil
  • Cytoplasm
  • Cytoplasmic vesicle
  • Disease variant
  • Endosome
  • Glaucoma
  • Golgi apparatus
  • Host-virus interaction
  • Innate immunity
  • Phosphoprotein
  • Reference proteome
  • Zinc-finger
Proteins
Displaying 1 entry
UniProt Protein Name
Q96CV9
  • E3-14.7K-interacting protein
  • Huntingtin yeast partner L
  • Huntingtin-interacting protein 7
  • Huntingtin-interacting protein L
  • NEMO-related protein
  • Optic neuropathy-inducing protein
  • Transcription factor IIIA-interacting protein
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
nf-kappa-b essential modulator
Functional Category
  • I: Lipid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 15 in total
DO ID Disease Name Source
DOID:0060203 amyotrophic lateral sclerosis type 12
DOID:0081294 neuronal intranuclear inclusion disease
DOID:1067 open-angle glaucoma
DOID:1070 primary open angle glaucoma
DOID:12858 Huntington's disease
DOID:13544 low tension glaucoma
DOID:13641 exfoliation syndrome
DOID:13948 bladder neck obstruction
DOID:14330 Parkinson's disease
DOID:1686 glaucoma

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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