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Entry version 170 (02 Jun 2021)
Sequence version 3 (28 Mar 2018)
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Protein

Optineurin

Gene

OPTN

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi555ZincPROSITE-ProRule annotation1
Metal bindingi558ZincPROSITE-ProRule annotation1
Metal bindingi571ZincPROSITE-ProRule annotation1
Metal bindingi575ZincPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri547 – 577CCHC NOA-typePROSITE-ProRule annotationAdd BLAST31

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAutophagy, Host-virus interaction, Immunity, Innate immunity
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q96CV9

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

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SIGNORi
Q96CV9

Protein family/group databases

Transport Classification Database

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TCDBi
8.A.157.1.1, the optineurin (optn) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OPTN
Synonyms:FIP2, GLC1E, HIP7, HYPL, NRP
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:17142, OPTN

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602432, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96CV9

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000123240.16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endosome, Golgi apparatus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glaucoma 1, open angle, E (GLC1E)11 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 variants affecting the gene represented in this entry.
Disease descriptionA primary glaucoma characterized by intraocular pression consistently within the statistically normal population range.
Related information in OMIM
Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (ALS12)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of amyotrophic lateral sclerosis, 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. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia.
Related information in OMIM
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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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 variant, Glaucoma, Neurodegeneration

Organism-specific databases

DisGeNET

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DisGeNETi
10133

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
OPTN

MalaCards human disease database

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MalaCardsi
OPTN
MIMi137760, phenotype
606657, phenotype
613435, phenotype

Open Targets

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OpenTargetsi
ENSG00000123240

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
803, Amyotrophic lateral sclerosis
353225, NON RARE IN EUROPE: Primary adult open-angle glaucoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31948

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q96CV9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
OPTN

Domain mapping of disease mutations (DMDM)

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DMDMi
317373403

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000580661 – 577OptineurinAdd BLAST577

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei177Phosphoserine; by TBK1Combined sources1 Publication1
Modified residuei198PhosphoserineCombined sources1
Modified residuei342PhosphoserineCombined sources1
Modified residuei526PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
Q96CV9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96CV9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96CV9

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96CV9

PeptideAtlas

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PeptideAtlasi
Q96CV9

PRoteomics IDEntifications database

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PRIDEi
Q96CV9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
76226 [Q96CV9-1]
76227 [Q96CV9-2]
76228 [Q96CV9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96CV9

MetOSite database of methionine sulfoxide sites

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MetOSitei
Q96CV9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96CV9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000123240, Expressed in amniotic fluid and 250 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96CV9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96CV9, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000123240, Tissue enriched (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Self-associates (PubMed:23669351).

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).

Interacts with RAB12; the interaction may be indirect.

Interacts with TBK1; this interaction leads to the Golgi localization of TBK1 and its subsequent activation.

Interacts with palmitoyltransferase ZDHHC17/HIP14; the interaction does not lead to palmitoylation of OPTN (PubMed:24705354).

13 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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q96CV9
With#Exp.IntAct
ABHD17C [Q6PCB6]3EBI-748974,EBI-22011868
ACP1 - isoform 2 [P24666-2]3EBI-748974,EBI-25910301
ACSS3 [Q9H6R3]3EBI-748974,EBI-3921478
AGGF1 - isoform 2 [Q8N302-2]3EBI-748974,EBI-25838028
AIMP1 - isoform 2 [Q12904-2]6EBI-748974,EBI-12412735
ANKRD45 - isoform 2 [Q5TZF3-1]3EBI-748974,EBI-22011535
ANXA5 [P08758]3EBI-748974,EBI-296601
AP3B1 [O00203]3EBI-748974,EBI-1044383
ARL16 [Q0P5N6]3EBI-748974,EBI-10186132
ARRDC3 [Q96B67]3EBI-748974,EBI-2875665
ASB4 - isoform 2 [Q9Y574-2]3EBI-748974,EBI-25911000
ASCL4 [Q6XD76]3EBI-748974,EBI-10254793
ASMTL [O95671]3EBI-748974,EBI-743231
ATL1 [Q8WXF7]3EBI-748974,EBI-2410266
BEGAIN [Q9BUH8]3EBI-748974,EBI-742722
BIRC5 [O15392]3EBI-748974,EBI-518823
BRWD1 - isoform D [Q9NSI6-4]3EBI-748974,EBI-10693038
BSCL2 - isoform 3 [Q96G97-4]3EBI-748974,EBI-10178113
BTN3A2 [P78410]3EBI-748974,EBI-17564670
BTNL2 - isoform 4 [Q9UIR0-4]3EBI-748974,EBI-25911105
C15orf32 - isoform 2 [Q32M92-2]3EBI-748974,EBI-25911375
C17orf67 [Q0P5P2]3EBI-748974,EBI-10226540
C8orf48 [Q96LL4]3EBI-748974,EBI-751596
CADPS [A2RRN7]3EBI-748974,EBI-10179719
CAPN1 [P07384]3EBI-748974,EBI-1542113
CCDC13 [Q8IYE1]3EBI-748974,EBI-10961312
CDC23 [Q9UJX2]8EBI-748974,EBI-396137
CENPA [P49450]3EBI-748974,EBI-1751979
CEP250 [Q9BV73]3EBI-748974,EBI-1053100
CEP72 [Q9P209]3EBI-748974,EBI-739498
CFL1 [P23528]3EBI-748974,EBI-352733
CNIH3 [Q8TBE1]3EBI-748974,EBI-12208021
CPN1 [P15169]3EBI-748974,EBI-2116369
CRYM [Q14894]3EBI-748974,EBI-7107048
DAZAP2 [Q15038]6EBI-748974,EBI-724310
DKK4 [Q9UBT3]3EBI-748974,EBI-18030204
DPP9 - isoform 2 [Q86TI2-2]3EBI-748974,EBI-21529239
DUS3L [Q96G46]3EBI-748974,EBI-5458011
ENTPD2 [Q9Y5L3]3EBI-748974,EBI-3913907
ESRP1 - isoform 3 [Q6NXG1-3]3EBI-748974,EBI-21567429
FKSG83 [Q3KNW7]3EBI-748974,EBI-9087984
FXR2 [P51116]3EBI-748974,EBI-740459
GABRG1 [Q8N1C3]3EBI-748974,EBI-21747962
GLYR1 - isoform 4 [Q49A26-4]3EBI-748974,EBI-12143817
GPANK1 [O95872]3EBI-748974,EBI-751540
H3C15 [Q71DI3]3EBI-748974,EBI-750650
HACE1 [Q8IYU2]15EBI-748974,EBI-308277
HAND2 - isoform 2 [P61296-2]3EBI-748974,EBI-13086076
HDAC10 [Q969S8]3EBI-748974,EBI-301762
HLA-DPB1 [A0A1C3PI11]3EBI-748974,EBI-25910418
HLA-DPB1 [P04440]3EBI-748974,EBI-2802503
HSF2BP [O75031]3EBI-748974,EBI-7116203
HTR1E [P28566]3EBI-748974,EBI-1043151
HTT [P42858]13EBI-748974,EBI-466029
IK [Q13123]3EBI-748974,EBI-713456
IL4I1 [Q96RQ9]3EBI-748974,EBI-20831744
IRF8 [Q02556]3EBI-748974,EBI-2866563
IRGM [A1A4Y4]3EBI-748974,EBI-20844678
JADE1 - isoform 3 [Q6IE81-3]3EBI-748974,EBI-12120084
KIAA0825 [Q8IV33]3EBI-748974,EBI-17702098
KRTAP9-2 [Q9BYQ4]3EBI-748974,EBI-1044640
LASP1 - isoform 2 [Q14847-2]3EBI-748974,EBI-9088686
LDHAL6B [Q9BYZ2]3EBI-748974,EBI-1108377
LITAF [Q99732]3EBI-748974,EBI-725647
LNX2 [Q8N448]3EBI-748974,EBI-2340947
LOC401296 [A2RU56]3EBI-748974,EBI-9088215
LPXN [O60711]3EBI-748974,EBI-744222
MECP2 [P51608]3EBI-748974,EBI-1189067
MGARP [Q8TDB4]3EBI-748974,EBI-4397720
MGAT4B [Q9UQ53]3EBI-748974,EBI-725713
MKL1 [A4FUJ8]3EBI-748974,EBI-21250407
MKNK1 [Q9BUB5]3EBI-748974,EBI-73837
MMAB [Q96EY8]3EBI-748974,EBI-7825413
MPP1 [Q00013]2EBI-748974,EBI-711788
MTFP1 [Q9UDX5]3EBI-748974,EBI-1042890
MYEOV [Q96EZ4]3EBI-748974,EBI-12260130
NCOA3 - isoform 5 [Q9Y6Q9-5]3EBI-748974,EBI-11057583
NIP7 [Q9Y221]3EBI-748974,EBI-749003
NMRAL1 [Q9HBL8]3EBI-748974,EBI-2862643
NRL - isoform 1 [P54845-1]6EBI-748974,EBI-9819090
NUDCD2 [Q8WVJ2]3EBI-748974,EBI-1052153
ODF3L2 [Q3SX64]3EBI-748974,EBI-6660184
OFCC1 [Q8IZS5]3EBI-748974,EBI-8477661
itself16EBI-748974,EBI-748974
P2RY4 [P51582]3EBI-748974,EBI-4392513
P3H3 - isoform 2 [Q8IVL6-2]3EBI-748974,EBI-12149899
PALM2 [Q8IXS6]3EBI-748974,EBI-12871462
PAPSS2 [O95340]3EBI-748974,EBI-1053912
PAXX [Q9BUH6]3EBI-748974,EBI-2839993
PDE4D - isoform 6 [Q08499-8]3EBI-748974,EBI-9090666
PDZK1IP1 [Q13113]3EBI-748974,EBI-716063
PEX16 [Q9Y5Y5]3EBI-748974,EBI-981985
PICK1 [Q9NRD5]3EBI-748974,EBI-79165
PLTP - isoform 2 [P55058-2]3EBI-748974,EBI-12701312
POU6F2 [P78424]3EBI-748974,EBI-12029004
PPP1R11 [O60927]3EBI-748974,EBI-1048104
PROS1 [P07225]3EBI-748974,EBI-2803380
PSMC2 [P35998]3EBI-748974,EBI-359710
QKI [Q96PU8]3EBI-748974,EBI-945792
RAB10 [P61026]3EBI-748974,EBI-726075
RAB8A [P61006]4EBI-748974,EBI-722293
RAP1GDS1 - isoform 4 [P52306-4]3EBI-748974,EBI-25910540
RAPSN - isoform 2 [Q13702-2]3EBI-748974,EBI-22012855
RARA - isoform Alpha-2 [P10276-2]3EBI-748974,EBI-10197061
RASSF2 [P50749]3EBI-748974,EBI-960081
RBM12 [Q9NTZ6]6EBI-748974,EBI-310707
RETREG3 [Q86VR2]3EBI-748974,EBI-10192441
RNF111 - isoform 2 [Q6ZNA4-2]3EBI-748974,EBI-21535400
RNF112 [Q9ULX5]3EBI-748974,EBI-25829984
RNF216 [Q9NWF9]3EBI-748974,EBI-723313
RNF220 [Q9BWG1]3EBI-748974,EBI-10300482
RNF5 [Q99942]3EBI-748974,EBI-348482
RPP25 [Q9BUL9]3EBI-748974,EBI-366570
S100A1 [P23297]3EBI-748974,EBI-743686
SDCBP [O00560]3EBI-748974,EBI-727004
SGSM1 - isoform 3 [Q2NKQ1-4]3EBI-748974,EBI-10182463
SLC2A13 [Q96QE2]3EBI-748974,EBI-18082698
SLC39A1 [Q9NY26]3EBI-748974,EBI-726491
SMAD1 [Q15797]3EBI-748974,EBI-1567153
SMARCD1 [Q96GM5]3EBI-748974,EBI-358489
SMUG1 - isoform 2 [Q53HV7-2]3EBI-748974,EBI-12275818
SNW1 [Q13573]3EBI-748974,EBI-632715
SPATS1 [Q496A3]3EBI-748974,EBI-3923692
SPHK2 [Q9NRA0]3EBI-748974,EBI-985324
SQSTM1 [Q13501]7EBI-748974,EBI-307104
ST8SIA1 [Q92185]3EBI-748974,EBI-21541735
STIM1 [Q13586]3EBI-748974,EBI-448878
SUCLA2 [Q9P2R7]3EBI-748974,EBI-2269898
SYNE4 - isoform 2 [Q8N205-2]3EBI-748974,EBI-12099160
TARS1 [P26639]3EBI-748974,EBI-1042683
TBC1D15 [Q8TC07]9EBI-748974,EBI-1048247
TBC1D17 [Q9HA65]7EBI-748974,EBI-714625
TBK1 [Q9UHD2]15EBI-748974,EBI-356402
TEAD1 - isoform 2 [P28347-2]3EBI-748974,EBI-12151837
TERF1 - isoform 2 [P54274-2]3EBI-748974,EBI-711018
THADA [Q6YHU6]3EBI-748974,EBI-2824523
THAP6 [Q8TBB0]3EBI-748974,EBI-3925505
THOP1 [P52888]3EBI-748974,EBI-372399
TNIP1 [Q15025]19EBI-748974,EBI-357849
TTLL7 [I6L9D0]3EBI-748974,EBI-9092141
TUT7 - isoform 5 [Q5VYS8-5]3EBI-748974,EBI-9088812
UBE2A [P49459]3EBI-748974,EBI-2339348
USP2 [O75604]3EBI-748974,EBI-743272
VCL - isoform 1 [P18206-2]3EBI-748974,EBI-11027067
VILL - isoform 2 [O15195-2]3EBI-748974,EBI-21845957
WASHC3 [Q9Y3C0]17EBI-748974,EBI-712969
WDFY3 - isoform 2 [Q8IZQ1-2]3EBI-748974,EBI-10264625
WDFY4 - isoform 2 [Q6ZS81-2]3EBI-748974,EBI-25911158
ZBTB14 [O43829]3EBI-748974,EBI-10176632
ZBTB48 [P10074]3EBI-748974,EBI-744864
ZGPAT - isoform 2 [Q8N5A5-2]3EBI-748974,EBI-10183064
ZHX1-C8orf76 [Q96EF9]3EBI-748974,EBI-25830993
ZKSCAN1 [P17029]3EBI-748974,EBI-10199654
ZMAT2 [Q96NC0]4EBI-748974,EBI-2682299
ZMYM4 - isoform 4 [Q5VZL5-4]3EBI-748974,EBI-10984536
ZNF17 [P17021]3EBI-748974,EBI-1105334
ZNF281 [Q9Y2X9]3EBI-748974,EBI-396200
ZNF302 - isoform 2 [Q9NR11-2]3EBI-748974,EBI-12988373
ZNF329 [Q86UD4]3EBI-748974,EBI-7233259
ZNF398 [Q8TD17]3EBI-748974,EBI-8643207
ZNF419 [Q96HQ0]3EBI-748974,EBI-10288482
ZNF426 [Q9BUY5]4EBI-748974,EBI-743265
ZNF444 - isoform 2 [Q8N0Y2-2]3EBI-748974,EBI-12010736
ZNF446 - isoform 2 [Q9NWS9-2]3EBI-748974,EBI-740232
ZNF488 - isoform 2 [Q96MN9-2]3EBI-748974,EBI-25831733
ZNF597 [Q96LX8]3EBI-748974,EBI-9091553
ZNF670 [Q9BS34]6EBI-748974,EBI-745276
ZYG11B [Q9C0D3]3EBI-748974,EBI-1811414
Q8N1Y93EBI-748974,EBI-25911564
MYO6 [Q29122] from Sus scrofa.3EBI-748974,EBI-15804516
Serine protease/helicase NS3 (PRO_0000045599) from Hepatitis C virus genotype 2a (isolate JFH-1).3EBI-748974,EBI-6858501
Isoform 2 [Q96CV9-2]
With#Exp.IntAct
APBB2 - isoform 2 [Q92870-2]3EBI-9091423,EBI-21535880
DNM2 - isoform 2 [P50570-2]3EBI-9091423,EBI-10968534
GDAP1 [Q8TB36]3EBI-9091423,EBI-11110431
HTT [P42858]18EBI-9091423,EBI-466029
LITAF [Q99732]3EBI-9091423,EBI-725647
NDUFV1 [P49821]3EBI-9091423,EBI-748312
TOR1A - isoform 2 [O14656-2]3EBI-9091423,EBI-25847109
WFS1 [O76024]3EBI-9091423,EBI-720609
ZDHHC17 [Q8IUH5]2EBI-9091423,EBI-524753

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
115436, 214 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96CV9

Database of interacting proteins

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DIPi
DIP-42001N

Protein interaction database and analysis system

More...
IntActi
Q96CV9, 238 interactors

Molecular INTeraction database

More...
MINTi
Q96CV9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000368022

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96CV9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96CV9

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 32DisorderedSequence analysisAdd BLAST32
Regioni58 – 209Interaction with Rab8Add BLAST152
Regioni101 – 143DisorderedSequence analysisAdd BLAST43
Regioni186 – 209DisorderedSequence analysisAdd BLAST24
Regioni261 – 297DisorderedSequence analysisAdd BLAST37
Regioni411 – 577Interaction with HDAdd BLAST167
Regioni412 – 520Interaction with MYO61 PublicationAdd BLAST109

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili38 – 170Sequence analysisAdd BLAST133
Coiled coili239 – 508Sequence analysisAdd BLAST270

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi176 – 181LIR6
Motifi474 – 479UBAN6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1 – 24Polar residuesSequence analysisAdd BLAST24
Compositional biasi261 – 295Basic and acidic residuesSequence analysisAdd BLAST35

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QTG2, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00530000063808

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_034097_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96CV9

Identification of Orthologs from Complete Genome Data

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OMAi
QGNIPEH

Database of Orthologous Groups

More...
OrthoDBi
745047at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96CV9

TreeFam database of animal gene trees

More...
TreeFami
TF326608

Family and domain databases

Intrinsically Disordered proteins with Extensive Annotations and Literature

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IDEALi
IID00348

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032419, CC2-LZ_dom
IPR021063, NEMO_N
IPR034735, NEMO_ZF
IPR032939, Optineurin

The PANTHER Classification System

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PANTHERi
PTHR31553:SF2, PTHR31553:SF2, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF16516, CC2-LZ, 1 hit
PF11577, NEMO, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51801, ZF_CCHC_NOA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X2G2A0A087X2G2_HUMAN
Optineurin
OPTN
58Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X6RKL2X6RKL2_HUMAN
Optineurin
OPTN
62Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WY28A0A087WY28_HUMAN
Optineurin
OPTN
107Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 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:rs523747EnsemblClinVar.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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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 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

The Consensus CDS (CCDS) project

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CCDSi
CCDS7094.1 [Q96CV9-1]

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10133

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10133

UCSC genome browser

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UCSCi
uc001ilv.2, human [Q96CV9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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[»]
SMRiQ96CV9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115436, 214 interactors
CORUMiQ96CV9
DIPiDIP-42001N
IntActiQ96CV9, 238 interactors
MINTiQ96CV9
STRINGi9606.ENSP00000368022

Protein family/group databases

TCDBi8.A.157.1.1, the optineurin (optn) family

PTM databases

iPTMnetiQ96CV9
MetOSiteiQ96CV9
PhosphoSitePlusiQ96CV9

Genetic variation databases

BioMutaiOPTN
DMDMi317373403

Proteomic databases

EPDiQ96CV9
jPOSTiQ96CV9
MassIVEiQ96CV9
PaxDbiQ96CV9
PeptideAtlasiQ96CV9
PRIDEiQ96CV9
ProteomicsDBi76226 [Q96CV9-1]
76227 [Q96CV9-2]
76228 [Q96CV9-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
1010, 363 antibodies

The DNASU plasmid repository

More...
DNASUi
10133

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

Comparative Toxicogenomics Database

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CTDi
10133
DisGeNETi10133

GeneCards: human genes, protein and diseases

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GeneCardsi
OPTN
GeneReviewsiOPTN
HGNCiHGNC:17142, OPTN
HPAiENSG00000123240, Tissue enriched (skeletal)
MalaCardsiOPTN
MIMi137760, phenotype
602432, gene
606657, phenotype
613435, phenotype
neXtProtiNX_Q96CV9
OpenTargetsiENSG00000123240
Orphaneti803, Amyotrophic lateral sclerosis
353225, NON RARE IN EUROPE: Primary adult open-angle glaucoma
PharmGKBiPA31948
VEuPathDBiHostDB:ENSG00000123240.16

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QTG2, Eukaryota
GeneTreeiENSGT00530000063808
HOGENOMiCLU_034097_1_0_1
InParanoidiQ96CV9
OMAiQGNIPEH
OrthoDBi745047at2759
PhylomeDBiQ96CV9
TreeFamiTF326608

Enzyme and pathway databases

PathwayCommonsiQ96CV9
ReactomeiR-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854214, TBC/RABGAPs
SIGNORiQ96CV9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
10133, 10 hits in 1008 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
OPTN, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Optineurin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10133
PharosiQ96CV9, Tbio

Protein Ontology

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PROi
PR:Q96CV9
RNActiQ96CV9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123240, Expressed in amniotic fluid and 250 other tissues
ExpressionAtlasiQ96CV9, baseline and differential
GenevisibleiQ96CV9, HS

Family and domain databases

IDEALiIID00348
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

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOPTN_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96CV9
Secondary accession number(s): B3KP00
, D3DRS4, D3DRS8, Q5T672, Q5T673, Q5T674, Q5T675, Q7LDL9, Q8N562, Q9UET9, Q9UEV4, Q9Y218
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: March 28, 2018
Last modified: June 2, 2021
This is version 170 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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