HUMAN:OPTN

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	OPTN (synonyms: FIP2, GLC1E, HIP7, HYPL, NRP)
Protein Name(s)	Optineurin E3-14.7K-interacting protein FIP-2 Huntingtin yeast partner L Huntingtin-interacting protein 7 HIP-7 Huntingtin-interacting protein L NEMO-related protein Optic neuropathy-inducing protein Transcription factor IIIA-interacting protein TFIIIA-IntP
External Links
UniProt	Q96CV9
EMBL	AF061034 AF061034 AF420371 AF420372 AF420373 AF283527 AF283520 AF283521 AF283522 AF283523 AF283524 AF283525 AF283526 AK055403 AL355355 AL355355 AL355355 AL355355 CH471072 CH471072 CH471072 CH471072 CH471072 CH471072 CH471072 BC013876 BC032762 AF049614
CCDS	CCDS7094.1
RefSeq	NP_001008212.1 NP_001008213.1 NP_001008214.1 NP_068815.2 XP_005252393.2 XP_005252394.2
UniGene	Hs.332706
PDB	2LO4 2LUE 3VTV 3VTW
PDBsum	2LO4 2LUE 3VTV 3VTW
ProteinModelPortal	Q96CV9
SMR	Q96CV9
BioGrid	115436
DIP	DIP-42001N
IntAct	Q96CV9
MINT	MINT-155870
PhosphoSite	Q96CV9
DMDM	317373403
MaxQB	Q96CV9
PaxDb	Q96CV9
PRIDE	Q96CV9
DNASU	10133
Ensembl	ENST00000263036 ENST00000378747 ENST00000378748 ENST00000378752 ENST00000378757 ENST00000378764
GeneID	10133
KEGG	hsa:10133
UCSC	uc001ilu.1 uc001ily.1
CTD	10133
GeneCards	GC10P013141
GeneReviews	OPTN
HGNC	HGNC:17142
HPA	CAB019303 HPA003279 HPA003360
MIM	137760 602432 606657 613435
neXtProt	NX_Q96CV9
Orphanet	803 353225
PharmGKB	PA31948
eggNOG	NOG138369
GeneTree	ENSGT00530000063808
HOVERGEN	HBG106481
InParanoid	Q96CV9
OMA	AHPNLDT
OrthoDB	EOG7D2FD7
PhylomeDB	Q96CV9
TreeFam	TF326608
Reactome	REACT_160315
ChiTaRS	OPTN
GeneWiki	Optineurin
GenomeRNAi	10133
NextBio	38327
PRO	PR:Q96CV9
Proteomes	UP000005640
Bgee	Q96CV9
ExpressionAtlas	Q96CV9
Genevestigator	Q96CV9
GO	GO:0005776 GO:0005737 GO:0016023 GO:0005829 GO:0005794 GO:0000139 GO:0005654 GO:0048471 GO:0055037 GO:0005802 GO:0031593 GO:0008022 GO:0017137 GO:0008219 GO:0050829 GO:0000086 GO:0007030 GO:0090161 GO:0043001 GO:0016236 GO:0000278 GO:0001920 GO:0000042 GO:0007165
InterPro	IPR021063
Pfam	PF11577

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
involved_in	GO:0061734	parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization	PMID:25294927^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0034620	cellular response to unfolded protein	PMID:27534431^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0090161	Golgi ribbon formation	PMID:27534431^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:27534431^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0030674	protein binding, bridging	PMID:25803835^[3]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9UHD2	F		Seeded From UniProt	complete
involved_in	GO:1904417	positive regulation of xenophagy	PMID:21617041^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0001920	negative regulation of receptor recycling	PMID:22854040^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0050829	defense response to Gram-negative bacterium	PMID:21617041^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0031593	polyubiquitin modification-dependent protein binding	PMID:21617041^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0010508	positive regulation of autophagy	PMID:21617041^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0017137	Rab GTPase binding	PMID:17646400^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q92930	F		Seeded From UniProt	complete
enables	GO:0017137	Rab GTPase binding	PMID:17646400^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P61006	F		Seeded From UniProt	complete
involved_in	GO:0090161	Golgi ribbon formation	PMID:15837803^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0043001	Golgi to plasma membrane protein transport	PMID:15837803^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0008022	protein C-terminus binding	PMID:15837803^[7]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9UM54	F		Seeded From UniProt	complete
involved_in	GO:0007030	Golgi organization	PMID:15837803^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	PMID:20174559^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:15837803^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0034067	protein localization to Golgi apparatus	PMID:15837803^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0090161	Golgi ribbon formation	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001268349 UniProtKB:Q96CV9	P		Seeded From UniProt	complete
enables	GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1338074 MGI:MGI:1918898 PANTHER:PTN001268347	F		Seeded From UniProt	complete
involved_in	GO:0034067	protein localization to Golgi apparatus	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001268349 UniProtKB:Q96CV9	P		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001268349 RGD:628886 UniProtKB:Q96CV9	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0041205 MGI:MGI:1338074 PANTHER:PTN001268347 RGD:628886 UniProtKB:Q9Y6K9	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0041205 PANTHER:PTN001268347 RGD:628886 UniProtKB:Q9Y6K9	C		Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:26871637^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96CV9	F	occurs_in:(GO:0005737)	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:25910212^[11]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96CV9	F	occurs_in:(GO:0005737)	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:25416956^[12]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96CV9	F	occurs_in:(GO:0005737)	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:24983867^[13]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96CV9	F	occurs_in:(GO:0005737)	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	PMID:23414517^[14]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96CV9	F	occurs_in:(GO:0005737)	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K3K8 ensembl:ENSMUSP00000110648	F		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K3K8 ensembl:ENSMUSP00000110648	C		Seeded From UniProt	complete
involved_in	GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K3K8 ensembl:ENSMUSP00000110648	P		Seeded From UniProt	complete
involved_in	GO:0034613	cellular protein localization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8K3K8 ensembl:ENSMUSP00000110648	P		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032939	C		Seeded From UniProt	complete
involved_in	GO:0006914	autophagy	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032939	P		Seeded From UniProt	complete
involved_in	GO:0016192	vesicle-mediated transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032939	P		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032939	C		Seeded From UniProt	complete
enables	GO:0070530	K63-linked polyubiquitin modification-dependent protein binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR032939 InterPro:IPR034735	F		Seeded From UniProt	complete
involved_in	GO:0008219	cell death	PMID:9488477^[15]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0007165	signal transduction	PMID:9488477^[15]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:9488477^[15]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0055038	recycling endosome membrane	Reactome:R-HSA-8854182	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-2562594 Reactome:R-HSA-2562526	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-2562594	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0000139	Golgi membrane	Reactome:R-HSA-2562526	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0000086	G2/M transition of mitotic cell cycle	Reactome:R-HSA-69275	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0968	C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0333 UniProtKB-SubCell:SL-0132	C		Seeded From UniProt	complete
involved_in	GO:0045087	innate immune response	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0399	P		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		Seeded From UniProt	complete
involved_in	GO:0002376	immune system process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0391	P		Seeded From UniProt	complete
part_of	GO:0005768	endosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0967	C		Seeded From UniProt	complete
involved_in	GO:0006914	autophagy	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0072	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0198	C		Seeded From UniProt	complete
part_of	GO:0005776	autophagosome	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0023	C		Seeded From UniProt	complete
part_of	GO:0055037	recycling endosome	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0232	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Wong, YC & Holzbaur, EL (2014) Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation. Proc. Natl. Acad. Sci. U.S.A. 111 E4439-48 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Fifita, JA et al. (2017) A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. Amyotroph Lateral Scler Frontotemporal Degener 18 126-133 PubMed GONUTS page
↑ Freischmidt, A et al. (2015) Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat. Neurosci. 18 631-6 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 Wild, P et al. (2011) Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth. Science 333 228-33 PubMed GONUTS page
↑ Vaibhava, V et al. (2012) Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17. J. Cell. Sci. 125 5026-39 PubMed GONUTS page
↑ ^6.0 ^6.1 Yoshimura, S et al. (2007) Functional dissection of Rab GTPases involved in primary cilium formation. J. Cell Biol. 178 363-9 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 Sahlender, DA et al. (2005) Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J. Cell Biol. 169 285-95 PubMed GONUTS page
↑ Mankouri, J et al. (2010) Optineurin negatively regulates the induction of IFNbeta in response to RNA virus infection. PLoS Pathog. 6 e1000778 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 ^9.4 ^9.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Yang, X et al. (2016) Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Cell 164 805-17 PubMed GONUTS page
↑ Sahni, N et al. (2015) Widespread macromolecular interaction perturbations in human genetic disorders. Cell 161 647-660 PubMed GONUTS page
↑ Rolland, T et al. (2014) A proteome-scale map of the human interactome network. Cell 159 1212-26 PubMed GONUTS page
↑ Gao, J et al. (2014) Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology. PLoS ONE 9 e101206 PubMed GONUTS page
↑ Blandin, G et al. (2013) A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skelet Muscle 3 3 PubMed GONUTS page
↑ ^15.0 ^15.1 ^15.2 Li, Y et al. (1998) Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Mol. Cell. Biol. 18 1601-10 PubMed GONUTS page

[PMID:25294927-1] Wong, YC & Holzbaur, EL (2014) Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation. Proc. Natl. Acad. Sci. U.S.A. 111 E4439-48 PubMed GONUTS page

[PMID:27534431-2] 2.0 ^2.1 ^2.2 Fifita, JA et al. (2017) A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. Amyotroph Lateral Scler Frontotemporal Degener 18 126-133 PubMed GONUTS page

[PMID:25803835-3] Freischmidt, A et al. (2015) Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat. Neurosci. 18 631-6 PubMed GONUTS page

[PMID:21617041-4] 4.0 ^4.1 ^4.2 ^4.3 Wild, P et al. (2011) Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth. Science 333 228-33 PubMed GONUTS page

[PMID:22854040-5] Vaibhava, V et al. (2012) Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17. J. Cell. Sci. 125 5026-39 PubMed GONUTS page

[PMID:17646400-6] 6.0 ^6.1 Yoshimura, S et al. (2007) Functional dissection of Rab GTPases involved in primary cilium formation. J. Cell Biol. 178 363-9 PubMed GONUTS page

[PMID:15837803-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 Sahlender, DA et al. (2005) Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J. Cell Biol. 169 285-95 PubMed GONUTS page

[PMID:20174559-8] Mankouri, J et al. (2010) Optineurin negatively regulates the induction of IFNbeta in response to RNA virus infection. PLoS Pathog. 6 e1000778 PubMed GONUTS page

[PMID:21873635-9] 9.0 ^9.1 ^9.2 ^9.3 ^9.4 ^9.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:26871637-10] Yang, X et al. (2016) Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Cell 164 805-17 PubMed GONUTS page

[PMID:25910212-11] Sahni, N et al. (2015) Widespread macromolecular interaction perturbations in human genetic disorders. Cell 161 647-660 PubMed GONUTS page

[PMID:25416956-12] Rolland, T et al. (2014) A proteome-scale map of the human interactome network. Cell 159 1212-26 PubMed GONUTS page

[PMID:24983867-13] Gao, J et al. (2014) Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology. PLoS ONE 9 e101206 PubMed GONUTS page

[PMID:23414517-14] Blandin, G et al. (2013) A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skelet Muscle 3 3 PubMed GONUTS page

[PMID:9488477-15] 15.0 ^15.1 ^15.2 Li, Y et al. (1998) Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Mol. Cell. Biol. 18 1601-10 PubMed GONUTS page

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HUMAN:OPTN

Contents

Annotations

Notes

References

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