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Protein

Optineurin

Gene

OPTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta. Plays a neuroprotective role in the eye and optic nerve. 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 recruitment 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/NDP52.8 Publications
(Microbial infection) May constitute a cellular target for adenovirus E3 14.7 and Bluetongue virus protein NS3 to inhibit innate immune response.2 Publications

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

Regions

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processAutophagy, Immunity, Innate immunity
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854214 TBC/RABGAPs
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

EuPathDBiHostDB:ENSG00000123240.16
HGNCiHGNC:17142 OPTN
MIMi602432 gene
neXtProtiNX_Q96CV9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endosome, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Glaucoma 1, open angle, E (GLC1E)11 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 PublicationsCorresponds to variant dbSNP:rs200710076Ensembl.1
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 dbSNP:rs28939688EnsemblClinVar.1
Natural variantiVAR_021540103E → D in GLC1E. 1 PublicationCorresponds to variant dbSNP:rs1346865805Ensembl.1
Natural variantiVAR_021546486H → R in GLC1E; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs373425395Ensembl.1
Natural variantiVAR_021547545R → Q in GLC1E; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs75654767EnsemblClinVar.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
Amyotrophic lateral sclerosis 12 (ALS12)2 Publications
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_078108295V → F in ALS12; no effect on Golgi subcellular location; no effect on protein expression level; increased Golgi fragmentation; decreased Golgi ribbon formation; increased susceptibility to endoplasmic reticulum (ER) stress. 1 PublicationCorresponds to variant dbSNP:rs761558354Ensembl.1
Natural variantiVAR_063597478E → G in ALS12. 1 PublicationCorresponds to variant dbSNP:rs267606929EnsemblClinVar.1

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
GeneReviewsiOPTN
MalaCardsiOPTN
MIMi137760 phenotype
606657 phenotype
613435 phenotype
OpenTargetsiENSG00000123240
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
ProteomicsDBi76226
76227 [Q96CV9-2]
76228 [Q96CV9-3]

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 Expressed in 237 organ(s), highest expression level in amniotic fluid
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 TBK1; this interaction leads to the Golgi localization of TBK1 and its subsequent activation.12 Publications
(Microbial infection) Interacts with E3 14.7 kDa protein of group C human adenovirus (PubMed:9488477). Interacts with Bluetongue virus protein NS3 (PubMed:27538435).2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115436, 87 interactors
CORUMiQ96CV9
DIPiDIP-42001N
IntActiQ96CV9, 90 interactors
MINTiQ96CV9
STRINGi9606.ENSP00000263036

Structurei

Secondary structure

1577
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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
GeneTreeiENSGT00530000063808
HOVERGENiHBG106481
InParanoidiQ96CV9
KOiK19946
OrthoDBiEOG091G0576
PhylomeDBiQ96CV9
TreeFamiTF326608

Family and domain databases

InterProiView protein in InterPro
IPR032419 CC2-LZ_dom
IPR021063 NEMO_N
IPR034735 NEMO_ZF
IPR032939 Optineurin
PANTHERiPTHR31553:SF2 PTHR31553:SF2, 1 hit
PfamiView protein in Pfam
PF16516 CC2-LZ, 1 hit
PF11577 NEMO, 1 hit
PROSITEiView protein in PROSITE
PS51801 ZF_CCHC_NOA, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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 SEAELMKKRL 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):65,922
Last modified:March 28, 2018 - v3
Checksum:i2BAF841BA515AAE2
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):65,203
Checksum:i7C15F88F8BDB3AEA
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):59,560
Checksum:i5B276FF6BEDD5271
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C1H4H7C1H4_HUMAN
Optineurin
OPTN
126Annotation score:
X6RKL2X6RKL2_HUMAN
Optineurin isoform 4
OPTN
62Annotation score:
A0A087WY28A0A087WY28_HUMAN
Optineurin
OPTN
107Annotation score:
A0A087X2G2A0A087X2G2_HUMAN
Optineurin
OPTN
58Annotation score:

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 PublicationsCorresponds to variant dbSNP:rs200710076Ensembl.1
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 dbSNP:rs28939688EnsemblClinVar.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 dbSNP:rs11258194EnsemblClinVar.1
Natural variantiVAR_021540103E → D in GLC1E. 1 PublicationCorresponds to variant dbSNP:rs1346865805Ensembl.1
Natural variantiVAR_021541201P → S3 Publications1
Natural variantiVAR_021542213K → H Requires 2 nucleotide substitutions. 3 Publications1
Natural variantiVAR_021543216S → R3 PublicationsCorresponds to variant dbSNP:rs750088207Ensembl.1
Natural variantiVAR_078108295V → F in ALS12; no effect on Golgi subcellular location; no effect on protein expression level; increased Golgi fragmentation; decreased Golgi ribbon formation; increased susceptibility to endoplasmic reticulum (ER) stress. 1 PublicationCorresponds to variant dbSNP:rs761558354Ensembl.1
Natural variantiVAR_030769308S → P. Corresponds to variant dbSNP:rs7068431Ensembl.1
Natural variantiVAR_021544322E → K. Corresponds to variant dbSNP:rs523747Ensembl.1
Natural variantiVAR_021545357T → P3 Publications1
Natural variantiVAR_063597478E → G in ALS12. 1 PublicationCorresponds to variant dbSNP:rs267606929EnsemblClinVar.1
Natural variantiVAR_021546486H → R in GLC1E; juvenile onset. 2 PublicationsCorresponds to variant dbSNP:rs373425395Ensembl.1
Natural variantiVAR_021547545R → Q in GLC1E; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs75654767EnsemblClinVar.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 No translation available.
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 [Q96CV9-1]
NP_001008213.1, NM_001008212.1 [Q96CV9-1]
NP_001008214.1, NM_001008213.1 [Q96CV9-1]
NP_068815.2, NM_021980.4 [Q96CV9-1]
UniGeneiHs.332706

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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 No translation available.
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 [Q96CV9-1]
NP_001008213.1, NM_001008212.1 [Q96CV9-1]
NP_001008214.1, NM_001008213.1 [Q96CV9-1]
NP_068815.2, NM_021980.4 [Q96CV9-1]
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, 87 interactors
CORUMiQ96CV9
DIPiDIP-42001N
IntActiQ96CV9, 90 interactors
MINTiQ96CV9
STRINGi9606.ENSP00000263036

PTM databases

iPTMnetiQ96CV9
PhosphoSitePlusiQ96CV9

Polymorphism and mutation databases

BioMutaiOPTN
DMDMi317373403

Proteomic databases

EPDiQ96CV9
MaxQBiQ96CV9
PaxDbiQ96CV9
PeptideAtlasiQ96CV9
PRIDEiQ96CV9
ProteomicsDBi76226
76227 [Q96CV9-2]
76228 [Q96CV9-3]

Protocols and materials databases

DNASUi10133
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10133
DisGeNETi10133
EuPathDBiHostDB:ENSG00000123240.16
GeneCardsiOPTN
GeneReviewsiOPTN
HGNCiHGNC:17142 OPTN
HPAiCAB019303
HPA003279
HPA003360
MalaCardsiOPTN
MIMi137760 phenotype
602432 gene
606657 phenotype
613435 phenotype
neXtProtiNX_Q96CV9
OpenTargetsiENSG00000123240
Orphaneti803 Amyotrophic lateral sclerosis
353225 Primary adult open-angle glaucoma
PharmGKBiPA31948
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE97 Eukaryota
ENOG410Z0DF LUCA
GeneTreeiENSGT00530000063808
HOVERGENiHBG106481
InParanoidiQ96CV9
KOiK19946
OrthoDBiEOG091G0576
PhylomeDBiQ96CV9
TreeFamiTF326608

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854214 TBC/RABGAPs
SIGNORiQ96CV9

Miscellaneous databases

ChiTaRSiOPTN human
GeneWikiiOptineurin
GenomeRNAii10133
PROiPR:Q96CV9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123240 Expressed in 237 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiQ96CV9 baseline and differential
GenevisibleiQ96CV9 HS

Family and domain databases

InterProiView protein in InterPro
IPR032419 CC2-LZ_dom
IPR021063 NEMO_N
IPR034735 NEMO_ZF
IPR032939 Optineurin
PANTHERiPTHR31553:SF2 PTHR31553:SF2, 1 hit
PfamiView protein in Pfam
PF16516 CC2-LZ, 1 hit
PF11577 NEMO, 1 hit
PROSITEiView protein in PROSITE
PS51801 ZF_CCHC_NOA, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 28, 2018
Last modified: October 10, 2018
This is version 150 of the entry and version 3 of the sequence. See 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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