Symbol: Name: ID: |
OPTN optineurin GFS:6229 |
Gene name: | OPTN |
Chromosome: | 10p14 |
Previous Symbols: | GLC1E |
Previous Names: | glaucoma 1, open angle, E (adult-onset) |
Aliases: | FIP2, HYPL, TFIIIA-INTP, NRP, HIP7 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1918898 | Rat Genome Database ID: | RGD:628886 |
HGNC ID: | HGNC:17142 | RefSeq IDs: | NM_001008211 |
Entrez Gene ID: | 10133 | Ensembl Gene ID: | ENSG00000123240 |
VEGA IDs: | OTTHUMG00000017690 | UniProt ID: | Q96CV9 |
UCSC ID: | uc001ilx.1 | OMIM ID: | 602432 |
Pubmed: | PMID11834836 PMID 9488477 | ||
CCDS IDs: | CCDSCCDS7094.1 |
Optineurin is a protein that in humans is encoded by the OPTN gene.
This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].
Function: Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation. Negatively regulates the induction of IFNB in response to RNA virus infection. Plays a neuroprotective role in the eye and optic nerve. Probably part of the TNF-alpha signaling pathway that can shift the equilibrium toward induction of cell death. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death.
Products for OPTN gene
Catalog | Product Name | Application | Company |
GFS:E06229 | optineurin; ELISA kit | ELISA | n/a |
GFS:A06229 | optineurin; Anti | ANTIBODIES | n/a |
GFS:P06229 | optineurin; Protien | Protien | n/a |