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Q96CV9

- OPTN_HUMAN

UniProt

Q96CV9 - OPTN_HUMAN

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Protein

Optineurin

Gene

OPTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as of transferrin receptor (TFRC/TfR); regulates Rab8 recruitnment to tubules emanating from the endocytic recycling compartment. Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52. May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death.6 Publications

GO - Molecular functioni

  1. polyubiquitin binding Source: UniProtKB
  2. protein C-terminus binding Source: UniProtKB
  3. Rab GTPase binding Source: UniProtKB

GO - Biological processi

  1. cell death Source: ProtInc
  2. defense response to Gram-negative bacterium Source: UniProtKB
  3. G2/M transition of mitotic cell cycle Source: Reactome
  4. Golgi organization Source: UniProtKB
  5. Golgi ribbon formation Source: UniProtKB
  6. Golgi to plasma membrane protein transport Source: UniProtKB
  7. macroautophagy Source: UniProtKB
  8. mitotic cell cycle Source: Reactome
  9. negative regulation of receptor recycling Source: UniProtKB
  10. protein targeting to Golgi Source: UniProtKB
  11. signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Autophagy

Enzyme and pathway databases

ReactomeiREACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Names & Taxonomyi

Protein namesi
Recommended name:
Optineurin
Alternative name(s):
E3-14.7K-interacting protein
FIP-2
Huntingtin yeast partner L
Huntingtin-interacting protein 7
Short name:
HIP-7
Huntingtin-interacting protein L
NEMO-related protein
Optic neuropathy-inducing protein
Transcription factor IIIA-interacting protein
Short name:
TFIIIA-IntP
Gene namesi
Name:OPTN
Synonyms:FIP2, GLC1E, HIP7, HYPL, NRP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:17142. OPTN.

Subcellular locationi

Cytoplasmperinuclear region. Golgi apparatus. Golgi apparatustrans-Golgi network. Cytoplasmic vesicleautophagosome. Cytoplasmic vesicle. Recycling endosome
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. Localizes to LC3-positive cytoplasmic vesicles upon induction of autophagy.

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. cytoplasmic vesicle Source: UniProtKB-KW
  3. cytosol Source: Reactome
  4. endosome Source: UniProtKB-KW
  5. Golgi apparatus Source: UniProtKB
  6. Golgi membrane Source: Reactome
  7. nucleoplasm Source: Reactome
  8. perinuclear region of cytoplasm Source: Ensembl
  9. trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endosome, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

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.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261H → D in GLC1E. 3 Publications
VAR_021537
Natural varianti50 – 501E → K in GLC1E; selectively promotes cell death of retinal ganglion cells probably by inducing TBC1D17-mediated inhibition of autophagy; altered interaction with RAB8A; no effect on interaction with TBC1D17; increases interaction with TFRC and impairs its endocytic recycling; increases interactions with TBK1; decreases self-association; disturbs transition from the ER to Golgi. 1 Publication
Corresponds to variant rs28939688 [ dbSNP | Ensembl ].
VAR_021538
Natural varianti98 – 981M → K May modify intraocular pressure and increase risk of GLC1E and NPG, induces TFRC degradation leading to autophagic death in retinal ganglion cells; may be a common polymorphism. 4 Publications
Corresponds to variant rs11258194 [ dbSNP | Ensembl ].
VAR_021539
Natural varianti103 – 1031E → D in GLC1E. 1 Publication
VAR_021540
Natural varianti486 – 4861H → R in GLC1E; juvenile onset. 2 Publications
VAR_021546
Natural varianti545 – 5451R → Q in GLC1E; unknown pathological significance. 3 Publications
Corresponds to variant rs28939689 [ dbSNP | Ensembl ].
VAR_021547
Glaucoma, normal pressure (NPG) [MIM:606657]: A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti98 – 981M → K May modify intraocular pressure and increase risk of GLC1E and NPG, induces TFRC degradation leading to autophagic death in retinal ganglion cells; may be a common polymorphism. 4 Publications
Corresponds to variant rs11258194 [ dbSNP | Ensembl ].
VAR_021539
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti478 – 4781E → G in ALS12. 1 Publication
VAR_063597

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi50 – 501E → K: Reduces cell death, decreased interaction with TFRC; when associated with N-474. 2 Publications
Mutagenesisi178 – 1781F → A: Abolishes interaction with MAP1LC3A and GABARAPL1, no effect on binding to linear ubiquitin. 2 Publications
Mutagenesisi178 – 1781F → W: Increases interaction with MAP1LC3B. 2 Publications
Mutagenesisi474 – 4752DF → NA: Abolishes colocalization with cytosolic Salmonella. 1 Publication
Mutagenesisi474 – 4741D → N: Reduces cell death, decreased interaction with TFRC; when associated with K-50. 3 Publications
Mutagenesisi474 – 4741D → N: Significant reduction in ubiquitin binding and interaction with TBK1. Inhibits localization to recycling endosomes and disrupts interaction with TFRC. Loss of ability to inhibit the activation of the IFNB promoter in response to TLR3 or RIG-I signaling. 3 Publications

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Glaucoma, Neurodegeneration

Organism-specific databases

MIMi137760. phenotype.
606657. phenotype.
613435. phenotype.
Orphaneti803. Amyotrophic lateral sclerosis.
353225. Primary adult open-angle glaucoma.
PharmGKBiPA31948.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 577577OptineurinPRO_0000058066Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei177 – 1771Phosphoserine; by TBK11 Publication

Post-translational modificationi

Phosphorylated by TBK1, leading to restrict bacterial proliferation in case of infection. Phosphorylation is induced by phorbol esters and decreases its half-time.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96CV9.
PaxDbiQ96CV9.
PRIDEiQ96CV9.

PTM databases

PhosphoSiteiQ96CV9.

Expressioni

Tissue specificityi

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.2 Publications

Inductioni

Upon TNF and interferon treatments. Up-regulated in direct response to viral infection.5 Publications

Gene expression databases

BgeeiQ96CV9.
ExpressionAtlasiQ96CV9. baseline and differential.
GenevestigatoriQ96CV9.

Organism-specific databases

HPAiCAB019303.
HPA003279.
HPA003360.

Interactioni

Subunit structurei

Interacts with HD, Rab8 (RAB8A and/or RAB8B) (active GTP-bound form), GTF3A, TRAF3, TBK1, MYO6 and TFRC. Binds to linear ubiquitin chains. Interacts with LC3 family members MAP1LC3A, MAP1LC3B, GABARAP, GABARAPL1 and GABARAPL2; OPTN phosphorylation increases the asscociation (at least with MAP1LC3B). Self-associates. Interacts with RAB12; the interaction may be indirect. Interacts with E3 14.7 kDa protein of group C human adenovirus.12 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Q99IB83EBI-748974,EBI-6858501From a different organism.
AKAP6Q130232EBI-748974,EBI-1056102
DSTQ030012EBI-748974,EBI-310758
DYSFO759233EBI-748974,EBI-2799016
HACE1Q8IYU215EBI-748974,EBI-308277
HTTP428587EBI-748974,EBI-466029
MPP1Q000132EBI-748974,EBI-711788
RAB8AP610064EBI-748974,EBI-722293
SLMAPQ14BN42EBI-748974,EBI-1043216
SNX6Q9UNH72EBI-748974,EBI-949294
SQSTM1Q135017EBI-748974,EBI-307104
TBC1D17Q9HA657EBI-748974,EBI-714625
TBK1Q9UHD211EBI-748974,EBI-356402
TNIP1Q150253EBI-748974,EBI-357849
TTNQ8WZ422EBI-748974,EBI-681210
VWFP042752EBI-748974,EBI-981819
ZDHHC17Q8IUH52EBI-9091423,EBI-524753

Protein-protein interaction databases

BioGridi115436. 60 interactions.
DIPiDIP-42001N.
IntActiQ96CV9. 65 interactions.
MINTiMINT-155870.

Structurei

Secondary structure

1
577
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi178 – 1803
Turni556 – 5605
Helixi566 – 5749

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LO4NMR-A550-577[»]
2LUENMR-B169-185[»]
3VTVX-ray1.70A170-181[»]
3VTWX-ray2.52A/B/C170-181[»]
ProteinModelPortaliQ96CV9.
SMRiQ96CV9. Positions 550-577.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni58 – 209152Interaction with Rab8Add
BLAST
Regioni411 – 577167Interaction with HDAdd
BLAST
Regioni412 – 520109Interaction with MYO6Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili38 – 170133Sequence AnalysisAdd
BLAST
Coiled coili239 – 508270Sequence AnalysisAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi176 – 1816LIR
Motifi474 – 4796UBAN

Domaini

Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and interaction with TBK1.
The LIR (LC3-interacting region) motif mediates the interaction with ATG8 family proteins.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG138369.
GeneTreeiENSGT00530000063808.
HOVERGENiHBG106481.
InParanoidiQ96CV9.
OMAiAHPNLDT.
OrthoDBiEOG7D2FD7.
PhylomeDBiQ96CV9.
TreeFamiTF326608.

Family and domain databases

InterProiIPR021063. NEMO_N.
[Graphical view]
PfamiPF11577. NEMO. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96CV9-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSHQPLSCLT EKEDSPSEST GNGPPHLAHP NLDTFTPEEL LQQMKELLTE
60 70 80 90 100
NHQLKEAMKL NNQAMKGRFE ELSAWTEKQK EERQFFEIQS KEAKERLMAL
110 120 130 140 150
SHENEKLKEE LGKLKGKSER SSEDPTDDSR LPRAEAEQEK DQLRTQVVRL
160 170 180 190 200
QAEKADLLGI VSELQLKLNS SGSSEDSFVE IRMAEGEAEG SVKEIKHSPG
210 220 230 240 250
PTRTVSTGTA LSKYRSRSAD GAKNYFEHEE LTVSQLLLCL REGNQKVERL
260 270 280 290 300
EVALKEAKER VSDFEKKTSN RSEIETQTEG STEKENDEEK GPETVGSEVE
310 320 330 340 350
ALNLQVTSLF KELQEAHTKL SKAELMKKRL QEKCQALERK NSAIPSELNE
360 370 380 390 400
KQELVYTNKK LELQVESMLS EIKMEQAKTE DEKSKLTVLQ MTHNKLLQEH
410 420 430 440 450
NNALKTIEEL TRKESEKVDR AVLKELSEKL ELAEKALASK QLQMDEMKQT
460 470 480 490 500
IAKQEEDLET MTILRAQMEV YCSDFHAERA AREKIHEEKE QLALQLAVLL
510 520 530 540 550
KENDAFEDGG RQSLMEMQSR HGARTSDSDQ QAYLVQRGAE DRDWRQQRNI
560 570
PIHSCPKCGE VLPDIDTLQI HVMDCII
Length:577
Mass (Da):65,921
Last modified:January 11, 2011 - v2
Checksum:iDB0F841E3315AAE1
GO
Isoform 2 (identifier: Q96CV9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-215: Missing.

Note: No experimental confirmation available.

Show »
Length:571
Mass (Da):65,202
Checksum:i8CB5F88A1DDB3AE9
GO
Isoform 3 (identifier: Q96CV9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.

Show »
Length:520
Mass (Da):59,559
Checksum:iAB876FF328DD5272
GO

Sequence cautioni

The sequence CAI16552.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti436 – 4361A → V in AAC26850. (PubMed:9700202)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261H → D in GLC1E. 3 Publications
VAR_021537
Natural varianti50 – 501E → K in GLC1E; selectively promotes cell death of retinal ganglion cells probably by inducing TBC1D17-mediated inhibition of autophagy; altered interaction with RAB8A; no effect on interaction with TBC1D17; increases interaction with TFRC and impairs its endocytic recycling; increases interactions with TBK1; decreases self-association; disturbs transition from the ER to Golgi. 1 Publication
Corresponds to variant rs28939688 [ dbSNP | Ensembl ].
VAR_021538
Natural varianti98 – 981M → K May modify intraocular pressure and increase risk of GLC1E and NPG, induces TFRC degradation leading to autophagic death in retinal ganglion cells; may be a common polymorphism. 4 Publications
Corresponds to variant rs11258194 [ dbSNP | Ensembl ].
VAR_021539
Natural varianti103 – 1031E → D in GLC1E. 1 Publication
VAR_021540
Natural varianti201 – 2011P → S.3 Publications
VAR_021541
Natural varianti213 – 2131K → H Requires 2 nucleotide substitutions. 3 Publications
VAR_021542
Natural varianti216 – 2161S → R.3 Publications
VAR_021543
Natural varianti308 – 3081S → P.
Corresponds to variant rs7068431 [ dbSNP | Ensembl ].
VAR_030769
Natural varianti322 – 3221K → E.6 Publications
Corresponds to variant rs523747 [ dbSNP | Ensembl ].
VAR_021544
Natural varianti357 – 3571T → P.3 Publications
VAR_021545
Natural varianti478 – 4781E → G in ALS12. 1 Publication
VAR_063597
Natural varianti486 – 4861H → R in GLC1E; juvenile onset. 2 Publications
VAR_021546
Natural varianti545 – 5451R → Q in GLC1E; unknown pathological significance. 3 Publications
Corresponds to variant rs28939689 [ dbSNP | Ensembl ].
VAR_021547

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5757Missing in isoform 3. 1 PublicationVSP_013261Add
BLAST
Alternative sequencei210 – 2156Missing in isoform 2. 1 PublicationVSP_013262

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF061034 mRNA. Translation: AAC16046.1.
AF061034 mRNA. Translation: AAC16047.1.
AF420371 mRNA. Translation: AAL76327.1.
AF420372 mRNA. Translation: AAL76328.1.
AF420373 mRNA. Translation: AAL76329.1.
AF283527
, AF283520, AF283521, AF283522, AF283523, AF283524, AF283525, AF283526 Genomic DNA. Translation: AAG00497.1.
AK055403 mRNA. Translation: BAG51512.1.
AL355355 Genomic DNA. Translation: CAI16549.1.
AL355355 Genomic DNA. Translation: CAI16550.1.
AL355355 Genomic DNA. Translation: CAI16551.1.
AL355355 Genomic DNA. Translation: CAI16552.1. Sequence problems.
CH471072 Genomic DNA. Translation: EAW86301.1.
CH471072 Genomic DNA. Translation: EAW86302.1.
CH471072 Genomic DNA. Translation: EAW86303.1.
CH471072 Genomic DNA. Translation: EAW86304.1.
CH471072 Genomic DNA. Translation: EAW86306.1.
CH471072 Genomic DNA. Translation: EAW86308.1.
CH471072 Genomic DNA. Translation: EAW86309.1.
BC013876 mRNA. Translation: AAH13876.1.
BC032762 mRNA. Translation: AAH32762.1.
AF049614 mRNA. Translation: AAC26850.1.
CCDSiCCDS7094.1. [Q96CV9-1]
RefSeqiNP_001008212.1. NM_001008211.1.
NP_001008213.1. NM_001008212.1.
NP_001008214.1. NM_001008213.1.
NP_068815.2. NM_021980.4.
XP_005252393.2. XM_005252336.2.
XP_005252394.2. XM_005252337.2.
UniGeneiHs.332706.

Genome annotation databases

EnsembliENST00000263036; ENSP00000263036; ENSG00000123240.
ENST00000378747; ENSP00000368021; ENSG00000123240.
ENST00000378748; ENSP00000368022; ENSG00000123240.
ENST00000378752; ENSP00000368027; ENSG00000123240.
ENST00000378757; ENSP00000368032; ENSG00000123240.
ENST00000378764; ENSP00000368040; ENSG00000123240.
GeneIDi10133.
KEGGihsa:10133.
UCSCiuc001ilu.1. human. [Q96CV9-1]
uc001ily.1. human. [Q96CV9-2]

Polymorphism databases

DMDMi317373403.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF061034 mRNA. Translation: AAC16046.1 .
AF061034 mRNA. Translation: AAC16047.1 .
AF420371 mRNA. Translation: AAL76327.1 .
AF420372 mRNA. Translation: AAL76328.1 .
AF420373 mRNA. Translation: AAL76329.1 .
AF283527
, AF283520 , AF283521 , AF283522 , AF283523 , AF283524 , AF283525 , AF283526 Genomic DNA. Translation: AAG00497.1 .
AK055403 mRNA. Translation: BAG51512.1 .
AL355355 Genomic DNA. Translation: CAI16549.1 .
AL355355 Genomic DNA. Translation: CAI16550.1 .
AL355355 Genomic DNA. Translation: CAI16551.1 .
AL355355 Genomic DNA. Translation: CAI16552.1 . Sequence problems.
CH471072 Genomic DNA. Translation: EAW86301.1 .
CH471072 Genomic DNA. Translation: EAW86302.1 .
CH471072 Genomic DNA. Translation: EAW86303.1 .
CH471072 Genomic DNA. Translation: EAW86304.1 .
CH471072 Genomic DNA. Translation: EAW86306.1 .
CH471072 Genomic DNA. Translation: EAW86308.1 .
CH471072 Genomic DNA. Translation: EAW86309.1 .
BC013876 mRNA. Translation: AAH13876.1 .
BC032762 mRNA. Translation: AAH32762.1 .
AF049614 mRNA. Translation: AAC26850.1 .
CCDSi CCDS7094.1. [Q96CV9-1 ]
RefSeqi NP_001008212.1. NM_001008211.1.
NP_001008213.1. NM_001008212.1.
NP_001008214.1. NM_001008213.1.
NP_068815.2. NM_021980.4.
XP_005252393.2. XM_005252336.2.
XP_005252394.2. XM_005252337.2.
UniGenei Hs.332706.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2LO4 NMR - A 550-577 [» ]
2LUE NMR - B 169-185 [» ]
3VTV X-ray 1.70 A 170-181 [» ]
3VTW X-ray 2.52 A/B/C 170-181 [» ]
ProteinModelPortali Q96CV9.
SMRi Q96CV9. Positions 550-577.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115436. 60 interactions.
DIPi DIP-42001N.
IntActi Q96CV9. 65 interactions.
MINTi MINT-155870.

PTM databases

PhosphoSitei Q96CV9.

Polymorphism databases

DMDMi 317373403.

Proteomic databases

MaxQBi Q96CV9.
PaxDbi Q96CV9.
PRIDEi Q96CV9.

Protocols and materials databases

DNASUi 10133.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263036 ; ENSP00000263036 ; ENSG00000123240 .
ENST00000378747 ; ENSP00000368021 ; ENSG00000123240 .
ENST00000378748 ; ENSP00000368022 ; ENSG00000123240 .
ENST00000378752 ; ENSP00000368027 ; ENSG00000123240 .
ENST00000378757 ; ENSP00000368032 ; ENSG00000123240 .
ENST00000378764 ; ENSP00000368040 ; ENSG00000123240 .
GeneIDi 10133.
KEGGi hsa:10133.
UCSCi uc001ilu.1. human. [Q96CV9-1 ]
uc001ily.1. human. [Q96CV9-2 ]

Organism-specific databases

CTDi 10133.
GeneCardsi GC10P013141.
GeneReviewsi OPTN.
HGNCi HGNC:17142. OPTN.
HPAi CAB019303.
HPA003279.
HPA003360.
MIMi 137760. phenotype.
602432. gene.
606657. phenotype.
613435. phenotype.
neXtProti NX_Q96CV9.
Orphaneti 803. Amyotrophic lateral sclerosis.
353225. Primary adult open-angle glaucoma.
PharmGKBi PA31948.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG138369.
GeneTreei ENSGT00530000063808.
HOVERGENi HBG106481.
InParanoidi Q96CV9.
OMAi AHPNLDT.
OrthoDBi EOG7D2FD7.
PhylomeDBi Q96CV9.
TreeFami TF326608.

Enzyme and pathway databases

Reactomei REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Miscellaneous databases

ChiTaRSi OPTN. human.
GeneWikii Optineurin.
GenomeRNAii 10133.
NextBioi 38327.
PROi Q96CV9.
SOURCEi Search...

Gene expression databases

Bgeei Q96CV9.
ExpressionAtlasi Q96CV9. baseline and differential.
Genevestigatori Q96CV9.

Family and domain databases

InterProi IPR021063. NEMO_N.
[Graphical view ]
Pfami PF11577. NEMO. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains."
    Li Y., Kang J., Horwitz M.S.
    Mol. Cell. Biol. 18:1601-1610(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 3), VARIANTS SER-201; HIS-213; ARG-216; GLU-322 AND PRO-357, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, INTERACTION WITH ADENOVIRUS E3.
    Tissue: Cervix carcinoma.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS GLC1E LYS-50 AND GLN-545, VARIANTS LYS-98; SER-201; HIS-213; ARG-216; GLU-322 AND PRO-357.
    Tissue: Trabecular meshwork.
  3. "Human FIP-2: genomic structure and mutational analysis in ARVD patients."
    Li D., Roberts R.
    Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-201; HIS-213; ARG-216; GLU-322 AND PRO-357.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-322.
    Tissue: Brain.
  5. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-322.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT GLU-322.
    Tissue: Cervix and Skin.
  8. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 412-555, INTERACTION WITH HD.
    Tissue: Testis.
  9. "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis."
    Hattula K., Peraenen J.
    Curr. Biol. 10:1603-1606(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HD AND RAB8.
  10. "Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway."
    Schwamborn K., Weil R., Courtois G., Whiteside S.T., Israeel A.
    J. Biol. Chem. 275:22780-22789(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INDUCTION, PHOSPHORYLATION.
  11. Cited for: INTERACTION WITH GTF3A.
  12. "Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure."
    Vittitow J., Borras T.
    Biochem. Biophys. Res. Commun. 298:67-74(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.
  13. "Optineurin gene expression level in human trabecular meshwork does not change in response to pressure elevation."
    Kamphuis W., Schneemann A.
    Ophthalmic Res. 35:93-96(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.
  14. "Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis."
    Sahlender D.A., Roberts R.C., Arden S.D., Spudich G., Taylor M.J., Luzio J.P., Kendrick-Jones J., Buss F.
    J. Cell Biol. 169:285-295(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH MYO6 AND RAB8.
  15. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  17. "Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant."
    Nagabhushana A., Chalasani M.L., Jain N., Radha V., Rangaraj N., Balasubramanian D., Swarup G.
    BMC Cell Biol. 11:4-4(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH TFRC AND RAB8A, MUTAGENESIS OF GLU-50 AND ASP-474, CHARACTERIZATION OF VARIANT GLC1E LYS-50.
  18. "Optineurin negatively regulates the induction of IFNbeta in response to RNA virus infection."
    Mankouri J., Fragkoudis R., Richards K.H., Wetherill L.F., Harris M., Kohl A., Elliott R.M., Macdonald A.
    PLoS Pathog. 6:E1000778-E1000778(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INDUCTION, INTERACTION WITH TBK1 AND TRAF3, UBIQUITIN-BINDING MOTIF, MUTAGENESIS OF ASP-474.
  19. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  20. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  21. "Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17."
    Vaibhava V., Nagabhushana A., Chalasani M.L., Sudhakar C., Kumari A., Swarup G.
    J. Cell Sci. 125:5026-5039(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH TBC1D17, INTERACTION WITH RAB8A, CHARACTERIZATION OF VARIANT GLC1E LYS-50.
  22. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  23. "The LIR motif - crucial for selective autophagy."
    Birgisdottir A.B., Lamark T., Johansen T.
    J. Cell Sci. 126:3237-3247(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: LIR MOTIF.
  24. Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 170-181, STRUCTURE BY NMR OF 169-185, INTERACTION WITH MAP1LC3B, MUTAGENESIS OF MUTAGENESIS OF PHE-178.
  25. "The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma."
    Melki R., Belmouden A., Akhayat O., Brezin A., Garchon H.-J.
    J. Med. Genet. 40:842-844(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LYS-98.
  26. Cited for: VARIANTS GLC1E ASP-103 AND ARG-486.
  27. Cited for: VARIANT GLC1E GLN-545.
  28. "M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells."
    Sirohi K., Chalasani M.L., Sudhakar C., Kumari A., Radha V., Swarup G.
    Autophagy 9:510-527(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT LYS-98, INTERACTION WITH RAB12.
  29. "E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy."
    Chalasani M.L., Kumari A., Radha V., Swarup G.
    PLoS ONE 9:E95758-E95758(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT GLC1E LYS-50, MUTAGENESIS OF GLU-50 AND ASP-474.
  30. "Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma."
    Minegishi Y., Iejima D., Kobayashi H., Chi Z.L., Kawase K., Yamamoto T., Seki T., Yuasa S., Fukuda K., Iwata T.
    Hum. Mol. Genet. 22:3559-3567(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: SELF-ASSOCIATION, SUBCELLULAR LOCATION, INTERACTION WITH TBK1, CHARACTERIZATION OF VARIANT GLC1E LYS-50.
  31. "Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the blue mountains eye study."
    Baird P.N., Richardson A.J., Craig J.E., Mackey D.A., Rochtchina E., Mitchell P.
    Clin. Exp. Ophthalmol. 32:518-522(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LYS-98.
  32. Cited for: VARIANT GLC1E ARG-486.
  33. Cited for: VARIANTS GLC1E ASP-26 AND GLN-545, VARIANT LYS-98.
  34. "Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population."
    Fuse N., Takahashi K., Akiyama H., Nakazawa T., Seimiya M., Kuwahara S., Tamai M.
    J. Glaucoma 13:299-303(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLC1E ASP-26.
  35. "Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients."
    Umeda T., Matsuo T., Nagayama M., Tamura N., Tanabe Y., Ohtsuki H.
    Ophthalmic Genet. 25:91-99(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NPG ASP-26.
  36. "A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants."
    Chalasani M.L., Radha V., Gupta V., Agarwal N., Balasubramanian D., Swarup G.
    Invest. Ophthalmol. Vis. Sci. 48:1607-1614(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT GLC1E LYS-50.
  37. Cited for: VARIANT ALS12 GLY-478, SUBCELLULAR LOCATION.
  38. "Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth."
    Wild P., Farhan H., McEwan D.G., Wagner S., Rogov V.V., Brady N.R., Richter B., Korac J., Waidmann O., Choudhary C., Dotsch V., Bumann D., Dikic I.
    Science 333:228-233(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH MAP1LC3A; MAP1LC3B; GABARAP; GABARAPL1 AND GABARAPL2, PHOSPHORYLATION AT SER-177 BY TBK1, UBIQUITIN-BINDING, MUTAGENESIS OF PHE-178 AND 474-ASP-PHE-475.

Entry informationi

Entry nameiOPTN_HUMAN
AccessioniPrimary (citable) accession number: Q96CV9
Secondary accession number(s): B3KP00
, D3DRS4, D3DRS8, Q5T672, Q5T673, Q5T674, Q5T675, Q7LDL9, Q8N562, Q9UET9, Q9UEV4, Q9Y218
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: January 11, 2011
Last modified: October 29, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

External Data

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