OPTN_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
OPTN
, FIP2, GLC1E, HIP7, HYPL, NRP
Protein names and data:
OPTN_HUMAN
, Optineurin
, E3-14.7K-interacting protein; FIP-2; Huntingtin yeast partner L; Huntingtin-interacting protein 7; HIP-7; Huntingtin-interacting protein L; NEMO-related protein; Optic neuropathy-inducing protein; Transcription factor IIIA-interacting protein; TFIIIA-IntP
Lenght: 577 a.a.
Mass: 65921 Da
fasta formatted sequence
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.
Disease:
( OMIM:
137760
602432
606657
613435
)
Glaucoma 1, open angle, E (GLC1E) [MIM:137760]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Note=The disease is caused by mutations affecting the gene represented in this entry. Glaucoma, normal pressure (NPG) [MIM:606657]: A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, perinuclear region. Golgi apparatus. Golgi apparatus, trans-Golgi network. Note=Found in the perinuclear region and associates with the Golgi apparatus. Colocalizes with MYO6 and RAB8 at the Golgi complex and in vesicular structures close to the plasma membrane.
Tissue specificity:
Present in aqueous humor of the eye (at protein level). Highly expressed in trabecular meshwork. Expressed nonpigmented ciliary epithelium, retina, brain, adrenal cortex, fetus, lymphocyte, fibroblast, skeletal muscle, heart, liver, brain and placenta.
Genetic variants
26 - 26
H -> D (in GLC1E). VAR_021537
50 - 50
E -> K (in GLC1E; dbSNP:rs28939688). VAR_021538
28939688
98 - 98
M -> K (may modify intraocular pressure and increase risk of GLC1E and NPG; may be a common polymorphism; dbSNP:rs11258194). VAR_021539
11258194
103 - 103
E -> D (in GLC1E). VAR_021540
201 - 201
P -> S. VAR_021541
213 - 213
K -> H (requires 2 nucleotide substitutions). VAR_021542
216 - 216
S -> R. VAR_021543
308 - 308
S -> P (in dbSNP:rs7068431). VAR_030769
7068431
322 - 322
K -> E (in dbSNP:rs523747). VAR_021544
523747
357 - 357
T -> P. VAR_021545
478 - 478
E -> G (in ALS12). VAR_063597
486 - 486
H -> R (in GLC1E; juvenile onset). VAR_021546
545 - 545
R -> Q (in GLC1E; unknown pathological significance; dbSNP:rs28939689). VAR_021547
28939689
Database cross-references
UniProt:
Q96CV9
Ensembl:
ENST00000263036
Ensembl:
ENST00000378747
Ensembl:
ENST00000378748
Ensembl:
ENST00000378752
Ensembl:
ENST00000378757
Ensembl:
ENST00000378764
MIM:
137760
MIM:
602432
MIM:
606657
MIM:
613435
neXtProt:
NX_Q96CV9
Antibodypedia:
Q96CV9
(may not find the protein thus also not any antibody)
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