Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Optineurin

Gene

OPTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri547 – 577CCHC NOA-typePROSITE-ProRule annotationAdd BLAST31

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • K63-linked polyubiquitin binding Source: GO_Central
  • metal ion binding Source: UniProtKB-KW
  • polyubiquitin binding Source: UniProtKB
  • protein binding, bridging Source: ParkinsonsUK-UCL
  • protein C-terminus binding Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

  • cell death Source: ProtInc
  • defense response to Gram-negative bacterium Source: UniProtKB
  • G2/M transition of mitotic cell cycle Source: Reactome
  • Golgi organization Source: UniProtKB
  • Golgi ribbon formation Source: UniProtKB
  • Golgi to plasma membrane protein transport Source: UniProtKB
  • macroautophagy Source: UniProtKB
  • negative regulation of I-kappaB kinase/NF-kappaB signaling Source: Ensembl
  • negative regulation of receptor recycling Source: UniProtKB
  • parkin-mediated mitophagy in response to mitochondrial depolarization Source: ParkinsonsUK-UCL
  • protein targeting to Golgi Source: UniProtKB
  • regulation of I-kappaB kinase/NF-kappaB signaling Source: GO_Central
  • signal transduction Source: ProtInc
  • xenophagy Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Biological processi

Autophagy

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123240-MONOMER.
ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
SIGNORiQ96CV9.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:17142. OPTN.

Subcellular locationi

GO - Cellular componenti

  • autophagosome Source: UniProtKB-SubCell
  • cytoplasm Source: HPA
  • cytoplasmic, membrane-bounded vesicle Source: GO_Central
  • cytosol Source: Reactome
  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: Reactome
  • nucleoplasm Source: Reactome
  • nucleus Source: GO_Central
  • perinuclear region of cytoplasm Source: UniProtKB-SubCell
  • recycling endosome Source: UniProtKB-SubCell
  • 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)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:137760
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02153726H → D in GLC1E. 3 Publications1
Natural variantiVAR_02153850E → 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. 6 PublicationsCorresponds to variant rs28939688dbSNPEnsembl.1
Natural variantiVAR_02153998M → K Polymorphism; may modify intraocular pressure and increase risk of GLC1E and NPG; induces TFRC degradation leading to autophagic death in retinal ganglion cells. 5 PublicationsCorresponds to variant rs11258194dbSNPEnsembl.1
Natural variantiVAR_021540103E → D in GLC1E. 1 Publication1
Natural variantiVAR_021546486H → R in GLC1E; juvenile onset. 2 Publications1
Natural variantiVAR_021547545R → Q in GLC1E; unknown pathological significance. 3 PublicationsCorresponds to variant rs28939689dbSNPEnsembl.1
Glaucoma, normal pressure (NPG)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA primary glaucoma characterized by intraocular pression consistently within the statistically normal population range.
See also OMIM:606657
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02153998M → K Polymorphism; may modify intraocular pressure and increase risk of GLC1E and NPG; induces TFRC degradation leading to autophagic death in retinal ganglion cells. 5 PublicationsCorresponds to variant rs11258194dbSNPEnsembl.1
Amyotrophic lateral sclerosis 12 (ALS12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613435
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063597478E → G in ALS12. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi50E → K: Reduces cell death, decreased interaction with TFRC; when associated with N-474. 2 Publications1
Mutagenesisi178F → A: Abolishes interaction with MAP1LC3A and GABARAPL1, no effect on binding to linear ubiquitin. 2 Publications1
Mutagenesisi178F → W: Increases interaction with MAP1LC3B. 2 Publications1
Mutagenesisi474 – 475DF → NA: Abolishes colocalization with cytosolic Salmonella. 1 Publication2
Mutagenesisi474D → N: Reduces cell death, decreased interaction with TFRC; when associated with K-50. 3 Publications1
Mutagenesisi474D → 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 Publications1

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Glaucoma, Neurodegeneration

Organism-specific databases

DisGeNETi10133.
MalaCardsiOPTN.
MIMi137760. phenotype.
606657. phenotype.
613435. phenotype.
Orphaneti803. Amyotrophic lateral sclerosis.
353225. Primary adult open-angle glaucoma.
PharmGKBiPA31948.

Polymorphism and mutation databases

BioMutaiOPTN.
DMDMi317373403.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000580661 – 577OptineurinAdd BLAST577

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei177Phosphoserine; by TBK1Combined sources1 Publication1
Modified residuei198PhosphoserineCombined sources1
Modified residuei342PhosphoserineCombined sources1
Modified residuei526PhosphoserineCombined sources1

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

EPDiQ96CV9.
MaxQBiQ96CV9.
PaxDbiQ96CV9.
PeptideAtlasiQ96CV9.
PRIDEiQ96CV9.

PTM databases

iPTMnetiQ96CV9.
PhosphoSitePlusiQ96CV9.

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

BgeeiENSG00000123240.
ExpressionAtlasiQ96CV9. baseline and differential.
GenevisibleiQ96CV9. HS.

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 association (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
itself8EBI-748974,EBI-748974
Q99IB83EBI-748974,EBI-6858501From a different organism.
AKAP6Q130232EBI-748974,EBI-1056102
CCDC53Q9Y3C09EBI-748974,EBI-712969
CDC23Q9UJX24EBI-748974,EBI-396137
DAZAP2Q150385EBI-748974,EBI-724310
DSTQ030012EBI-748974,EBI-310758
DYSFO759233EBI-748974,EBI-2799016
HACE1Q8IYU215EBI-748974,EBI-308277
HTTP428587EBI-748974,EBI-466029
MPP1Q000132EBI-748974,EBI-711788
NRLP54845-16EBI-748974,EBI-9819090
RAB10P610263EBI-748974,EBI-726075
RAB8AP610064EBI-748974,EBI-722293
SLMAPQ14BN42EBI-748974,EBI-1043216
SNX6Q9UNH72EBI-748974,EBI-949294
SQSTM1Q135017EBI-748974,EBI-307104
TBC1D15Q8TC075EBI-748974,EBI-1048247
TBC1D17Q9HA657EBI-748974,EBI-714625
TBK1Q9UHD211EBI-748974,EBI-356402
TNIP1Q150258EBI-748974,EBI-357849
TTNQ8WZ422EBI-748974,EBI-681210
VWFP042752EBI-748974,EBI-981819
ZDHHC17Q8IUH52EBI-9091423,EBI-524753
ZNF329Q86UD43EBI-748974,EBI-7233259
ZNF398Q8TD173EBI-748974,EBI-8643207
ZNF670Q9BS345EBI-748974,EBI-745276

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • K63-linked polyubiquitin binding Source: GO_Central
  • polyubiquitin binding Source: UniProtKB
  • protein binding, bridging Source: ParkinsonsUK-UCL
  • protein C-terminus binding Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115436. 75 interactors.
DIPiDIP-42001N.
IntActiQ96CV9. 85 interactors.
MINTiMINT-155870.
STRINGi9606.ENSP00000263036.

Structurei

Secondary structure

1577
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi178 – 180Combined sources3
Helixi447 – 497Combined sources51
Turni556 – 560Combined sources5
Beta strandi561 – 564Combined sources4
Helixi566 – 574Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LO4NMR-A550-577[»]
2LUENMR-B169-185[»]
3VTVX-ray1.70A170-181[»]
3VTWX-ray2.52A/B/C170-181[»]
5AAZNMR-A548-577[»]
5B83X-ray2.69B/C/E/F416-510[»]
5EOAX-ray2.50A/B26-103[»]
5EOFX-ray2.05A/B26-103[»]
ProteinModelPortaliQ96CV9.
SMRiQ96CV9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni58 – 209Interaction with Rab8Add BLAST152
Regioni411 – 577Interaction with HDAdd BLAST167
Regioni412 – 520Interaction with MYO61 PublicationAdd BLAST109

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili38 – 170Sequence analysisAdd BLAST133
Coiled coili239 – 508Sequence analysisAdd BLAST270

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi176 – 181LIR6
Motifi474 – 479UBAN6

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

Sequence similaritiesi

Contains 1 CCHC NOA-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri547 – 577CCHC NOA-typePROSITE-ProRule annotationAdd BLAST31

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IE97. Eukaryota.
ENOG410Z0DF. LUCA.
HOVERGENiHBG106481.
InParanoidiQ96CV9.
KOiK19946.
OrthoDBiEOG091G0576.
PhylomeDBiQ96CV9.
TreeFamiTF326608.

Family and domain databases

InterProiIPR032419. CC2-LZ_dom.
IPR021063. NEMO_N.
IPR032939. Optineurin.
[Graphical view]
PANTHERiPTHR31553:SF2. PTHR31553:SF2. 1 hit.
PfamiPF16516. CC2-LZ. 1 hit.
PF11577. NEMO. 1 hit.
[Graphical view]
PROSITEiPS51801. ZF_CCHC_NOA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti436A → V in AAC26850 (PubMed:9700202).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02153726H → D in GLC1E. 3 Publications1
Natural variantiVAR_02153850E → 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. 6 PublicationsCorresponds to variant rs28939688dbSNPEnsembl.1
Natural variantiVAR_02153998M → K Polymorphism; may modify intraocular pressure and increase risk of GLC1E and NPG; induces TFRC degradation leading to autophagic death in retinal ganglion cells. 5 PublicationsCorresponds to variant rs11258194dbSNPEnsembl.1
Natural variantiVAR_021540103E → D in GLC1E. 1 Publication1
Natural variantiVAR_021541201P → S.3 Publications1
Natural variantiVAR_021542213K → H Requires 2 nucleotide substitutions. 3 Publications1
Natural variantiVAR_021543216S → R.3 Publications1
Natural variantiVAR_030769308S → P.Corresponds to variant rs7068431dbSNPEnsembl.1
Natural variantiVAR_021544322K → E.6 PublicationsCorresponds to variant rs523747dbSNPEnsembl.1
Natural variantiVAR_021545357T → P.3 Publications1
Natural variantiVAR_063597478E → G in ALS12. 1 Publication1
Natural variantiVAR_021546486H → R in GLC1E; juvenile onset. 2 Publications1
Natural variantiVAR_021547545R → Q in GLC1E; unknown pathological significance. 3 PublicationsCorresponds to variant rs28939689dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0132611 – 57Missing in isoform 3. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_013262210 – 215Missing in isoform 2. 1 Publication6

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
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.
UCSCiuc001ilv.2. human. [Q96CV9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
UniGeneiHs.332706.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LO4NMR-A550-577[»]
2LUENMR-B169-185[»]
3VTVX-ray1.70A170-181[»]
3VTWX-ray2.52A/B/C170-181[»]
5AAZNMR-A548-577[»]
5B83X-ray2.69B/C/E/F416-510[»]
5EOAX-ray2.50A/B26-103[»]
5EOFX-ray2.05A/B26-103[»]
ProteinModelPortaliQ96CV9.
SMRiQ96CV9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115436. 75 interactors.
DIPiDIP-42001N.
IntActiQ96CV9. 85 interactors.
MINTiMINT-155870.
STRINGi9606.ENSP00000263036.

PTM databases

iPTMnetiQ96CV9.
PhosphoSitePlusiQ96CV9.

Polymorphism and mutation databases

BioMutaiOPTN.
DMDMi317373403.

Proteomic databases

EPDiQ96CV9.
MaxQBiQ96CV9.
PaxDbiQ96CV9.
PeptideAtlasiQ96CV9.
PRIDEiQ96CV9.

Protocols and materials databases

DNASUi10133.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263036; ENSP00000263036; ENSG00000123240.
ENST00000378747; ENSP00000368021; ENSG00000123240.
ENST00000378748; ENSP00000368022; ENSG00000123240.
ENST00000378752; ENSP00000368027; ENSG00000123240.
ENST00000378757; ENSP00000368032; ENSG00000123240.
ENST00000378764; ENSP00000368040; ENSG00000123240.
GeneIDi10133.
KEGGihsa:10133.
UCSCiuc001ilv.2. human. [Q96CV9-1]

Organism-specific databases

CTDi10133.
DisGeNETi10133.
GeneCardsiOPTN.
GeneReviewsiOPTN.
HGNCiHGNC:17142. OPTN.
HPAiCAB019303.
HPA003279.
HPA003360.
MalaCardsiOPTN.
MIMi137760. phenotype.
602432. gene.
606657. phenotype.
613435. phenotype.
neXtProtiNX_Q96CV9.
Orphaneti803. Amyotrophic lateral sclerosis.
353225. Primary adult open-angle glaucoma.
PharmGKBiPA31948.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE97. Eukaryota.
ENOG410Z0DF. LUCA.
HOVERGENiHBG106481.
InParanoidiQ96CV9.
KOiK19946.
OrthoDBiEOG091G0576.
PhylomeDBiQ96CV9.
TreeFamiTF326608.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123240-MONOMER.
ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
SIGNORiQ96CV9.

Miscellaneous databases

ChiTaRSiOPTN. human.
GeneWikiiOptineurin.
GenomeRNAii10133.
PROiQ96CV9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123240.
ExpressionAtlasiQ96CV9. baseline and differential.
GenevisibleiQ96CV9. HS.

Family and domain databases

InterProiIPR032419. CC2-LZ_dom.
IPR021063. NEMO_N.
IPR032939. Optineurin.
[Graphical view]
PANTHERiPTHR31553:SF2. PTHR31553:SF2. 1 hit.
PfamiPF16516. CC2-LZ. 1 hit.
PF11577. NEMO. 1 hit.
[Graphical view]
PROSITEiPS51801. ZF_CCHC_NOA. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 130 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

Caution

According to some authors (PubMed:12379221) its expression is regulated by intraocular pressure, suggesting a protective role in case of high pressure, while according to other authors (PubMed:12646749), it is not up-regulated in response to pressure elevation.2 Publications
Interaction of variant GLC1E LYS-50 with Rab8 is reported conflictingly. Coimmunoprecipitation experiments with overexpressed proteins suggested an increased interaction (PubMed:20085643) while yeast-two-hybrid (PubMed:22854040) and protein complentation assays with an equivalent mouse Optn construct (AC Q8K3K8) failed to show an interaction.2 Publications

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
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.