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Q96CV9

- OPTN_HUMAN

UniProt

Q96CV9 - OPTN_HUMAN

Protein

Optineurin

Gene

OPTN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
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    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 binding Source: IntAct
    3. protein C-terminus 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

    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. cytosol Source: Reactome
    3. Golgi apparatus Source: UniProtKB
    4. Golgi membrane Source: Reactome
    5. nucleoplasm Source: Reactome
    6. perinuclear region of cytoplasm Source: UniProtKB-SubCell
    7. trans-Golgi network Source: UniProtKB

    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. 3 Publications
    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 TBK12 Publications

    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.
    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
    HTTP428587EBI-748974,EBI-466029
    MPP1Q000132EBI-748974,EBI-711788
    SLMAPQ14BN42EBI-748974,EBI-1043216
    SNX6Q9UNH72EBI-748974,EBI-949294
    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. 54 interactions.
    DIPiDIP-42001N.
    IntActiQ96CV9. 60 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.
    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

    MSHQPLSCLT EKEDSPSEST GNGPPHLAHP NLDTFTPEEL LQQMKELLTE    50
    NHQLKEAMKL NNQAMKGRFE ELSAWTEKQK EERQFFEIQS KEAKERLMAL 100
    SHENEKLKEE LGKLKGKSER SSEDPTDDSR LPRAEAEQEK DQLRTQVVRL 150
    QAEKADLLGI VSELQLKLNS SGSSEDSFVE IRMAEGEAEG SVKEIKHSPG 200
    PTRTVSTGTA LSKYRSRSAD GAKNYFEHEE LTVSQLLLCL REGNQKVERL 250
    EVALKEAKER VSDFEKKTSN RSEIETQTEG STEKENDEEK GPETVGSEVE 300
    ALNLQVTSLF KELQEAHTKL SKAELMKKRL QEKCQALERK NSAIPSELNE 350
    KQELVYTNKK LELQVESMLS EIKMEQAKTE DEKSKLTVLQ MTHNKLLQEH 400
    NNALKTIEEL TRKESEKVDR AVLKELSEKL ELAEKALASK QLQMDEMKQT 450
    IAKQEEDLET MTILRAQMEV YCSDFHAERA AREKIHEEKE QLALQLAVLL 500
    KENDAFEDGG RQSLMEMQSR HGARTSDSDQ QAYLVQRGAE DRDWRQQRNI 550
    PIHSCPKCGE VLPDIDTLQI HVMDCII 577
    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. [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.
    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. 54 interactions.
    DIPi DIP-42001N.
    IntActi Q96CV9. 60 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 . [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 ]
    GeneIDi 10133.
    KEGGi hsa:10133.
    UCSCi uc001ilu.1. human. [Q96CV9-1 ]
    uc001ily.1. human. [Q96CV9-2 ]

    Organism-specific databases

    CTDi 10133.
    GeneCardsi GC10P013055.
    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.
    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.
    Genevestigatori Q96CV9.

    Family and domain databases

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

    Publicationsi

    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 1, 2014
    This is version 105 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

    Dasty 3