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Gene id 10133
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol OPTN   Gene   UCSC   Ensembl
Aliases ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
Gene name optineurin
Alternate names optineurin, E3-14.7K-interacting protein, FIP-2, HIP-7, Huntingtin interacting protein L, huntingtin yeast partner L, huntingtin-interacting protein 7, huntingtin-interacting protein L, nemo-related protein, optic neuropathy-inducing protein, transcription factor I,
Gene location 10p13 (13100081: 13138307)     Exons: 16     NC_000010.11
Gene summary(Entrez) 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
OMIM 602432

Protein Summary
Protein general information Q96CV9  

Name: 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

Length: 577  Mass: 65922

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, br

Sequence MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAW
TEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRL
QAEKADLLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNY
FEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVE
ALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKME
QAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQT
IAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGART
SDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII
Structural information
Interpro:  IPR032419  IPR021063  IPR034735  IPR032939  
Prosite:   PS51801

PDB:  		 2LO4 2LUE 3VTV 3VTW 5AAZ 5B83 5EOA 5EOF
PDBsum:   2LO4 2LUE 3VTV 3VTW 5AAZ 5B83 5EOA 5EOF

DIP:  
42001
MINT:  
STRING:   ENSP00000368022
Other Databases GeneCards:  OPTN  Malacards:  OPTN

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0030674 protein-macromolecule ada
ptor activity
 IPI molecular function
GO:1904417 positive regulation of xe
nophagy
 IMP biological process
GO:0061734 parkin-mediated stimulati
on of mitophagy in respon
se to mitochondrial depol
arization
 IMP biological process
GO:0005794 Golgi apparatus
 IBA cellular component
GO:0034067 protein localization to G
olgi apparatus
 IBA biological process
GO:0043122 regulation of I-kappaB ki
nase/NF-kappaB signaling
 IBA biological process
GO:0090161 Golgi ribbon formation
 IBA biological process
GO:0005634 nucleus
 IBA cellular component
GO:0005737 cytoplasm
 IBA cellular component
GO:0070530 K63-linked polyubiquitin
modification-dependent pr
otein binding
 IBA molecular function
GO:0031593 polyubiquitin modificatio
n-dependent protein bindi
ng
 IDA molecular function
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0090161 Golgi ribbon formation
 IDA biological process
GO:0005802 trans-Golgi network
 IDA cellular component
GO:0090161 Golgi ribbon formation
 IMP biological process
GO:0001920 negative regulation of re
ceptor recycling
 IMP biological process
GO:0050829 defense response to Gram-
negative bacterium
 IMP biological process
GO:0034620 cellular response to unfo
lded protein
 IMP biological process
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0016192 vesicle-mediated transpor
t
 IEA biological process
GO:0031410 cytoplasmic vesicle
 IEA cellular component
GO:0006914 autophagy
 IEA biological process
GO:0070530 K63-linked polyubiquitin
modification-dependent pr
otein binding
 IEA molecular function
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0031410 cytoplasmic vesicle
 IEA cellular component
GO:0005768 endosome
 IEA cellular component
GO:0045087 innate immune response
 IEA biological process
GO:0002376 immune system process
 IEA biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0006914 autophagy
 IEA biological process
GO:0005737 cytoplasm
 IEA cellular component
GO:0016032 viral process
 IEA biological process
GO:0005737 cytoplasm
 TAS cellular component
GO:0008219 cell death
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0000086 G2/M transition of mitoti
c cell cycle
 TAS biological process
GO:0000139 Golgi membrane
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0055038 recycling endosome membra
ne
 TAS cellular component
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0048471 perinuclear region of cyt
oplasm
 IEA cellular component
GO:0043124 negative regulation of I-
kappaB kinase/NF-kappaB s
ignaling
 IEA biological process
GO:0070530 K63-linked polyubiquitin
modification-dependent pr
otein binding
 IEA molecular function
GO:0034613 cellular protein localiza
tion
 IEA biological process
GO:0048471 perinuclear region of cyt
oplasm
 IEA cellular component
GO:0005794 Golgi apparatus
 IEA cellular component
GO:0055037 recycling endosome
 IEA cellular component
GO:0005776 autophagosome
 IEA cellular component
GO:0005829 cytosol
 IDA cellular component
GO:0010508 positive regulation of au
tophagy
 IDA biological process
GO:0005794 Golgi apparatus
 IDA cellular component
GO:0043001 Golgi to plasma membrane
protein transport
 IMP biological process
GO:0007030 Golgi organization
 IMP biological process
GO:0008022 protein C-terminus bindin
g
 IPI molecular function
GO:0017137 Rab GTPase binding
 IPI molecular function
GO:0017137 Rab GTPase binding
 IPI molecular function
GO:0034067 protein localization to G
olgi apparatus
 IMP biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04137Mitophagy - animal

Diseases

Expand All | Collapse All
Associated diseases References
Amyotrophic lateral sclerosis KEGG:H00058
Primary open angle glaucoma KEGG:H00612
Amyotrophic lateral sclerosis KEGG:H00058
Primary open angle glaucoma KEGG:H00612
open-angle glaucoma PMID:11834836
open-angle glaucoma PMID:14627677
primary open angle glaucoma PMID:15226658
primary open angle glaucoma PMID:15557444
Huntington's disease PMID:22318854
low tension glaucoma PMID:16148883
low tension glaucoma PMID:15226658
low tension glaucoma PMID:15557444
Glaucoma PMID:16148883
Amyotrophic lateral sclerosis PMID:21825243
Amyotrophic lateral sclerosis PMID:21613650
Paget's disease of bone PMID:20436471
Progressive myoclonus epilepsy PMID:22318854
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract