Q96CV9 (OPTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	OPTN
Synonyms:	FIP2, GLC1E, HIP7, HYPL, NRP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	577 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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). May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death. Ref.2 Ref.14 Ref.16
Subunit structure	Interacts with E3 14.7 kDa protein of group C human adenovirus. Interacts with HD. Interacts with Rab8 (RAB8A and/or RAB8B). Interacts with transcription factor IIIA (GTF3A). Interacts with TRAF3, TBK1 and MYO6. Binds to ubiquitin. Ref.1 Ref.8 Ref.9 Ref.11 Ref.14 Ref.16
Subcellular location	Cytoplasm › perinuclear region. Golgi apparatus. Golgi apparatus › trans-Golgi network. 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. Ref.1 Ref.2 Ref.10 Ref.14 Ref.16 Ref.25
Tissue specificity	Present in acqueous 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. Ref.1 Ref.2
Induction	Upon TNF and interferon treatments. Up-regulated in direct response to viral infection. Ref.1 Ref.10 Ref.12 Ref.13 Ref.16
Domain	Ubiquitin-binding motif (UBAN) is essential for its inhibitory function, subcellular localization and interaction with TBK1.
Post-translational modification	Phosphorylated by TBK1, leading to restrict bacterial proliferation in case of infection. Phosphorylation is induced by phorbol esters and decreases its half-time. Ref.10 Ref.15 Ref.26
Involvement in disease	Defects in OPTN are the cause of primary open angle glaucoma type 1E (GLC1E) [MIM:137760]. Primary open angle glaucoma (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. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Ref.2 Ref.18 Ref.19 Ref.21 Ref.22 Ref.23 Defects in OPTN are a cause of susceptibility to normal pressure glaucoma (NPG) [MIM:606657]. Ref.24 Defects in OPTN are the cause of amyotrophic lateral sclerosis type 12 (ALS12) [MIM:613435]. It is 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. Death usually occurs within 2 to 5 years. 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. Ref.25
Caution	According to some authors (Ref.12) its expression is regulated by intraocular pressure, suggesting a protective role in case of high pressure, while according to other authors (Ref.13), it is not up-regulated in response to pressure elevation.
Sequence caution	The sequence CAI16552.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Cytoplasm Golgi apparatus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Amyotrophic lateral sclerosis Disease mutation Glaucoma Neurodegeneration
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	Golgi ribbon formation Inferred from direct assay Ref.14. Source: UniProtKB Golgi to plasma membrane protein transport Inferred from mutant phenotype Ref.14. Source: UniProtKB cell death Traceable author statement. Source: ProtInc protein targeting to Golgi Inferred from mutant phenotype Ref.14. Source: UniProtKB signal transduction Traceable author statement. Source: ProtInc
Cellular component	perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell trans-Golgi network Inferred from direct assay Ref.16. Source: UniProtKB
Molecular function	protein C-terminus binding Inferred from physical interaction Ref.14. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96CV9-1)

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.

Isoform 2 (identifier: Q96CV9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     210-215: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96CV9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 577	577	Optineurin		PRO_0000058066
Regions
	Region	58 – 209	152	Interaction with Rab8
	Region	411 – 577	167	Interaction with HD
	Region	412 – 520	109	Interaction with MYO6
	Coiled coil	38 – 170	133	Potential
	Coiled coil	239 – 508	270	Potential
	Motif	474 – 479	6	UBAN
Amino acid modifications
	Modified residue	170	1	Phosphoserine Ref.15
	Modified residue	171	1	Phosphoserine Ref.15
	Modified residue	173	1	Phosphoserine Ref.15
	Modified residue	174	1	Phosphoserine Ref.15
	Modified residue	177	1	Phosphoserine; by TBK1 Ref.26
	Modified residue	342	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 57	57	Missing in isoform 3.		VSP_013261
	Alternative sequence	210 – 215	6	Missing in isoform 2.		VSP_013262
	Natural variant	26	1	H → D in GLC1E. Ref.22 Ref.23 Ref.24		VAR_021537
	Natural variant	50	1	E → K in GLC1E. Ref.2 Corresponds to variant rs28939688 [ dbSNP | Ensembl ].		VAR_021538
	Natural variant	98	1	M → K May modify intraocular pressure and increase risk of GLC1E and NPG; may be a common polymorphism. Ref.2 Ref.17 Ref.20 Ref.22 Corresponds to variant rs11258194 [ dbSNP | Ensembl ].		VAR_021539
	Natural variant	103	1	E → D in GLC1E. Ref.18		VAR_021540
	Natural variant	201	1	P → S. Ref.1 Ref.2 Ref.3		VAR_021541
	Natural variant	213	1	K → H Requires 2 nucleotide substitutions. Ref.1 Ref.2 Ref.3		VAR_021542
	Natural variant	216	1	S → R. Ref.1 Ref.2 Ref.3		VAR_021543
	Natural variant	308	1	S → P. Corresponds to variant rs7068431 [ dbSNP | Ensembl ].		VAR_030769
	Natural variant	322	1	K → E. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5 Ref.7 Corresponds to variant rs523747 [ dbSNP | Ensembl ].		VAR_021544
	Natural variant	357	1	T → P. Ref.1 Ref.2 Ref.3		VAR_021545
	Natural variant	478	1	E → G in ALS12. Ref.25		VAR_063597
	Natural variant	486	1	H → R in GLC1E; juvenile onset. Ref.18 Ref.21		VAR_021546
	Natural variant	545	1	R → Q in GLC1E; could be a polymorphism. Ref.2 Ref.19 Ref.22 Corresponds to variant rs28939689 [ dbSNP | Ensembl ].		VAR_021547
Experimental info
	Mutagenesis	474	1	D → N: Significant reduction in ubiquitin binding and interaction with TBK1. Loss of ability to inhibit the activation of the IFNB promoter in response to TLR3 or RIG-I signaling. Ref.16
	Sequence conflict	436	1	A → V in AAC26850. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 2. Checksum: DB0F841E3315AAE1	FASTA	577	65,921
	10 20 30 40 50 60 MSHQPLSCLT EKEDSPSEST GNGPPHLAHP NLDTFTPEEL LQQMKELLTE NHQLKEAMKL 70 80 90 100 110 120 NNQAMKGRFE ELSAWTEKQK EERQFFEIQS KEAKERLMAL SHENEKLKEE LGKLKGKSER 130 140 150 160 170 180 SSEDPTDDSR LPRAEAEQEK DQLRTQVVRL QAEKADLLGI VSELQLKLNS SGSSEDSFVE 190 200 210 220 230 240 IRMAEGEAEG SVKEIKHSPG PTRTVSTGTA LSKYRSRSAD GAKNYFEHEE LTVSQLLLCL 250 260 270 280 290 300 REGNQKVERL EVALKEAKER VSDFEKKTSN RSEIETQTEG STEKENDEEK GPETVGSEVE 310 320 330 340 350 360 ALNLQVTSLF KELQEAHTKL SKAELMKKRL QEKCQALERK NSAIPSELNE KQELVYTNKK 370 380 390 400 410 420 LELQVESMLS EIKMEQAKTE DEKSKLTVLQ MTHNKLLQEH NNALKTIEEL TRKESEKVDR 430 440 450 460 470 480 AVLKELSEKL ELAEKALASK QLQMDEMKQT IAKQEEDLET MTILRAQMEV YCSDFHAERA 490 500 510 520 530 540 AREKIHEEKE QLALQLAVLL KENDAFEDGG RQSLMEMQSR HGARTSDSDQ QAYLVQRGAE 550 560 570 DRDWRQQRNI PIHSCPKCGE VLPDIDTLQI HVMDCII
	Isoform 2 [UniParc]. Checksum: 8CB5F88A1DDB3AE9	FASTA	571	65,202
	10 20 30 40 50 60 MSHQPLSCLT EKEDSPSEST GNGPPHLAHP NLDTFTPEEL LQQMKELLTE NHQLKEAMKL 70 80 90 100 110 120 NNQAMKGRFE ELSAWTEKQK EERQFFEIQS KEAKERLMAL SHENEKLKEE LGKLKGKSER 130 140 150 160 170 180 SSEDPTDDSR LPRAEAEQEK DQLRTQVVRL QAEKADLLGI VSELQLKLNS SGSSEDSFVE 190 200 210 220 230 240 IRMAEGEAEG SVKEIKHSPG PTRTVSTGTS RSADGAKNYF EHEELTVSQL LLCLREGNQK 250 260 270 280 290 300 VERLEVALKE AKERVSDFEK KTSNRSEIET QTEGSTEKEN DEEKGPETVG SEVEALNLQV 310 320 330 340 350 360 TSLFKELQEA HTKLSKAELM KKRLQEKCQA LERKNSAIPS ELNEKQELVY TNKKLELQVE 370 380 390 400 410 420 SMLSEIKMEQ AKTEDEKSKL TVLQMTHNKL LQEHNNALKT IEELTRKESE KVDRAVLKEL 430 440 450 460 470 480 SEKLELAEKA LASKQLQMDE MKQTIAKQEE DLETMTILRA QMEVYCSDFH AERAAREKIH 490 500 510 520 530 540 EEKEQLALQL AVLLKENDAF EDGGRQSLME MQSRHGARTS DSDQQAYLVQ RGAEDRDWRQ 550 560 570 QRNIPIHSCP KCGEVLPDID TLQIHVMDCI I
	Isoform 3 [UniParc]. Checksum: AB876FF328DD5272	FASTA	520	59,559
	10 20 30 40 50 60 MKLNNQAMKG RFEELSAWTE KQKEERQFFE IQSKEAKERL MALSHENEKL KEELGKLKGK 70 80 90 100 110 120 SERSSEDPTD DSRLPRAEAE QEKDQLRTQV VRLQAEKADL LGIVSELQLK LNSSGSSEDS 130 140 150 160 170 180 FVEIRMAEGE AEGSVKEIKH SPGPTRTVST GTALSKYRSR SADGAKNYFE HEELTVSQLL 190 200 210 220 230 240 LCLREGNQKV ERLEVALKEA KERVSDFEKK TSNRSEIETQ TEGSTEKEND EEKGPETVGS 250 260 270 280 290 300 EVEALNLQVT SLFKELQEAH TKLSKAELMK KRLQEKCQAL ERKNSAIPSE LNEKQELVYT 310 320 330 340 350 360 NKKLELQVES MLSEIKMEQA KTEDEKSKLT VLQMTHNKLL QEHNNALKTI EELTRKESEK 370 380 390 400 410 420 VDRAVLKELS EKLELAEKAL ASKQLQMDEM KQTIAKQEED LETMTILRAQ MEVYCSDFHA 430 440 450 460 470 480 ERAAREKIHE EKEQLALQLA VLLKENDAFE DGGRQSLMEM QSRHGARTSD SDQQAYLVQR 490 500 510 520 GAEDRDWRQQ RNIPIHSCPK CGEVLPDIDT LQIHVMDCII

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 9488477] [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]	"Adult-onset primary open-angle glaucoma caused by mutations in optineurin." Rezaie T., Child A., Hitchings R., Brice G., Miller L., Coca-Prados M., Heon E., Krupin T., Ritch R., Kreutzer D., Crick R.P., Sarfarazi M. Science 295:1077-1079(2002) [PubMed: 11834836] [Abstract] 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: 14702039] [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: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-322.
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT GLU-322. Tissue: Cervix and Skin.
[8]	"Huntingtin interacts with a family of WW domain proteins." Faber P.W., Barnes G.T., Srinidhi J., Chen J., Gusella J.F., MacDonald M.E. Hum. Mol. Genet. 7:1463-1474(1998) [PubMed: 9700202] [Abstract] 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: 11137014] [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: 10807909] [Abstract] Cited for: SUBCELLULAR LOCATION, INDUCTION, PHOSPHORYLATION.
[11]	"Identification of a transcription factor IIIA-interacting protein." Moreland R.J., Dresser M.E., Rodgers J.S., Roe B.A., Conaway J.W., Conaway R.C., Hanas J.S. Nucleic Acids Res. 28:1986-1993(2000) [PubMed: 10756201] [Abstract] 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: 12379221] [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: 12646749] [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: 15837803] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH MYO6 AND RAB8.
[15]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-170; SER-171; SER-173 AND SER-174, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[16]	"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: 20174559] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INDUCTION, INTERACTION WITH TBK1 AND TRAF3, UBIQUITIN-BINDING MOTIF, MUTAGENESIS OF ASP-474.
[17]	"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: 14627677] [Abstract] Cited for: VARIANT LYS-98.
[18]	"Different optineurin mutation pattern in primary open-angle glaucoma." Leung Y.F., Fan B.J., Lam D.S.C., Lee W.S., Tam P.O.S., Chua J.K.H., Tham C.C.Y., Lai J.S.M., Fan D.S.P., Pang C.P. Invest. Ophthalmol. Vis. Sci. 44:3880-3884(2003) [PubMed: 12939304] [Abstract] Cited for: VARIANTS GLC1E ASP-103 AND ARG-486.
[19]	"Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma." Alward W.L.M., Kwon Y.H., Kawase K., Craig J.E., Hayreh S.S., Johnson A.T., Khanna C.L., Yamamoto T., Mackey D.A., Roos B.R., Affatigato L.M., Sheffield V.C., Stone E.M. Am. J. Ophthalmol. 136:904-910(2003) [PubMed: 14597044] [Abstract] Cited for: VARIANT GLC1E GLN-545.
[20]	"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: 15498064] [Abstract] Cited for: VARIANT LYS-98.
[21]	"Defining the pathogenicity of optineurin in juvenile open-angle glaucoma." Willoughby C.E., Chan L.L.Y., Herd S., Billingsley G., Noordeh N., Levin A.V., Buys Y., Trope G., Sarfarazi M., Heon E. Invest. Ophthalmol. Vis. Sci. 45:3122-3130(2004) [PubMed: 15326130] [Abstract] Cited for: VARIANT GLC1E ARG-486.
[22]	"Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma." Funayama T., Ishikawa K., Ohtake Y., Tanino T., Kurosaka D., Kimura I., Suzuki K., Ideta H., Nakamoto K., Yasuda N., Fujimaki T., Murakami A., Asaoka R., Hotta Y., Tanihara H., Kanamoto T., Mishima H., Fukuchi T. , Abe H., Iwata T., Shimada N., Kudoh J., Shimizu N., Mashima Y. Invest. Ophthalmol. Vis. Sci. 45:4359-4367(2004) [PubMed: 15557444] [Abstract] Cited for: VARIANTS GLC1E ASP-26 AND GLN-545, VARIANT LYS-98.
[23]	"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: 15226658] [Abstract] Cited for: VARIANT GLC1E ASP-26.
[24]	"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: 15370540] [Abstract] Cited for: VARIANT NPG ASP-26.
[25]	"Mutations of optineurin in amyotrophic lateral sclerosis." Maruyama H., Morino H., Ito H., Izumi Y., Kato H., Watanabe Y., Kinoshita Y., Kamada M., Nodera H., Suzuki H., Komure O., Matsuura S., Kobatake K., Morimoto N., Abe K., Suzuki N., Aoki M., Kawata A. , Hirai T., Kato T., Ogasawara K., Hirano A., Takumi T., Kusaka H., Hagiwara K., Kaji R., Kawakami H. Nature 465:223-226(2010) [PubMed: 20428114] [Abstract] Cited for: VARIANT ALS12 GLY-478, SUBCELLULAR LOCATION.
[26]	"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: 21617041] [Abstract] Cited for: PHOSPHORYLATION AT SER-177 BY TBK1.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00304189. IPI00514792. IPI00554537.
RefSeq	NP_001008212.1. NM_001008211.1. NP_001008213.1. NM_001008212.1. NP_001008214.1. NM_001008213.1. NP_068815.2. NM_021980.4.
UniGene	Hs.332706.
3D structure databases
ProteinModelPortal	Q96CV9.
SMR	Q96CV9. Positions 417-507, 551-576.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-42001N.
IntAct	Q96CV9. 21 interactions.
MINT	MINT-155870.
STRING	Q96CV9.
PTM databases
PhosphoSite	Q96CV9.
Polymorphism databases
DMDM	62287118.
Proteomic databases
PRIDE	Q96CV9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000263036; ENSP00000263036; ENSG00000123240. ENST00000378747; ENSP00000368021; ENSG00000123240. ENST00000378748; ENSP00000368022; ENSG00000123240. ENST00000378757; ENSP00000368032; ENSG00000123240. ENST00000396951; ENSP00000380154; ENSG00000123240.
GeneID	10133.
KEGG	hsa:10133.
UCSC	uc001ilu.1. human. uc001ily.1. human.
Organism-specific databases
CTD	10133.
GeneCards	GC10P013055.
H-InvDB	HIX0008651.
HGNC	HGNC:17142. OPTN.
HPA	CAB019303. HPA003279. HPA003360.
MIM	137760. phenotype. 602432. gene. 606657. phenotype. 613435. phenotype.
neXtProt	NX_Q96CV9.
Orphanet	803. Amyotrophic lateral sclerosis. 98976. Congenital glaucoma.
PharmGKB	PA31948.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19595.
GeneTree	ENSGT00530000063808.
HOVERGEN	HBG106481.
InParanoid	Q96CV9.
OMA	VTTLFKE.
OrthoDB	EOG4ZPDVF.
PhylomeDB	Q96CV9.
Gene expression databases
ArrayExpress	Q96CV9.
Bgee	Q96CV9.
Genevestigator	Q96CV9.
GermOnline	ENSG00000123240. Homo sapiens.
Family and domain databases
InterPro	IPR021063. NEMO_N. [Graphical view]
Pfam	PF11577. NEMO. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	38327.
SOURCE	Search...

Entry information

Entry name

OPTN_HUMAN

Accession

Primary (citable) accession number: Q96CV9
Secondary accession number(s): B3KP00 , D3DRS4, D3DRS8, Q5T672, Q5T673, Q5T674, Q5T675, Q7LDL9, Q8N562, Q9UET9, Q9UEV4, Q9Y218

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2005
Last sequence update:	January 11, 2011
Last modified:	December 14, 2011
This is version 79 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.