Reactome | IKBKG C417R [cytosol]

IKBKG C417R [cytosol]

Stable Identifier

R-HSA-5262858

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

NEMO C417R, IKKG C417R, IKK-gamma C417R, Inhibitor of nuclear factor kappa-B kinase gamma subunit

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Literature References

PubMed ID	Title	Journal	Year
16794254	Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination Liu, S, Jain, A, Borges, L, Ma, CA, Derry, JM, Temmerman, ST, Kubin, M	Blood	2006
12045264	Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations Schneider, LC, Köhler, JR, Ballas, ZK, Jain, A, Orange, JS, Strominger, JL, Brodeur, SR, Gellis, SE, Rasmussen, WL, Geha, RS, Ramesh, N, Ferguson, BM, Kretschmer, R, Nurko, S, Bonilla, FA, Zonana, J	J. Clin. Invest.	2002

External Reference Information

External Reference

UniProt:Q9Y6K9 IKBKG

Gene Names

IKBKG, FIP3, NEMO

Chain

chain:1-419

Reference Genes

BioGPS Gene:8517 IKBKG

COSMIC (genes):IKBKG IKBKG

CTD Gene:8517 IKBKG

dbSNP Gene:8517 IKBKG

ENSEMBL:ENSG00000269335 IKBKG

HGNC:5961 IKBKG

KEGG Gene (Homo sapiens):8517 IKBKG

Monarch:8517 IKBKG

NCBI Gene:8517 IKBKG

OMIM:300248 IKBKG

UCSC:Q9Y6K9 IKBKG

Reference Transcript

Other Identifiers

0003190114

11755328_a_at

11755329_x_at

11756119_a_at

11756120_x_at

11756123_a_at

11756124_x_at

11756384_a_at

11756385_x_at

17108468

209929_PM_s_at

209929_s_at

36004_3p_at

36004_PM_at

36004_at

3996553

3996554

3996557

3996558

3996559

3996560

3996561

3996562

3996563

3996564

3996565

3996569

3996572

3996573

3996578

3996579

3996581

3996583

3996584

3996585

3996586

3996587

3996588

3996589

4027476

4027477

4027478

4027479

4027480

4027483

4027484

4027489

4027490

4027492

4027574

8170955

8517

A_23_P159920

GE54691

GO:0000151

GO:0000922

GO:0002376

GO:0003674

GO:0005515

GO:0005575

GO:0005622

GO:0005634

GO:0005654

GO:0005737

GO:0005829

GO:0005856

GO:0006914

GO:0006915

GO:0006950

GO:0006954

GO:0006955

GO:0006974

GO:0007165

GO:0007249

GO:0008150

GO:0008219

GO:0008385

GO:0009056

GO:0009058

GO:0009615

GO:0016239

GO:0019899

GO:0019904

GO:0022607

GO:0031625

GO:0032182

GO:0032991

GO:0034641

GO:0042802

GO:0042803

GO:0043122

GO:0043123

GO:0043167

GO:0043226

GO:0043276

GO:0045087

GO:0045944

GO:0046872

GO:0046982

GO:0050852

GO:0050862

GO:0051092

GO:0051650

GO:0065003

GO:0070530

GO:0072686

GO:1901215

GO:1990450

GO:1990459

HMNXSV003001956

HMNXSV003012514

ILMN_1707308

PH_hs_0027638

TC0X001541.hg

TC0X001941.hg

g5031140_3p_s_at

Participates

as a member of

TLR associated IKBKG variants [cytosol] (Homo sapiens)

Other forms of this molecule

monoSUMO1-K277,K309-IKBKG [nucleoplasm]

IKBKG [nucleoplasm]

IKBKG D406V [cytosol]

IKBKG L153R [cytosol]

IKBKG E391* [cytosol]

IKBKG R173G [cytosol]

IKBKG R175P [cytosol]

IKBKG *420Wro*447 [cytosol]

K63polyUb-NEMO [cytosol]

Ub-285-IKBKG [cytosol]

IKBKG [cytosol]

Modified Residues

Name

L-cysteine 417 replaced with L-arginine

Coordinate

417

PsiMod

L-cysteine removal [MOD:01635]

A protein modification that effectively removes or replaces an L-cysteine.

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

Disease

Name	Identifier	Synonyms
primary immunodeficiency disease	DOID:612	immune deficiency disorder, immunodeficiency syndrome, hypoimmunity

Cross References

RefSeq

NP_001093326.2, NP_001308325.1, NP_003630.1, NP_001093327.1, NP_001308326.1, NP_001138727.1

OpenTargets

ENSG00000269335

ZINC - FDA approved

NEMO_HUMAN

ZINC - Substances

NEMO_HUMAN

ZINC target

Q9Y6K9

PRO

Q9Y6K9

PDB

3BRT, 2JVY, 3CL3, 5AAY, 6MI4, 2JVX, 3FX0, 4BWN, 6YEK, 5LDE, 3BRV, 6MI3

GeneCards

Q9Y6K9

HPA

ENSG00000269335-IKBKG

Ensembl

ENSP00000471166, ENSP00000479662, ENSG00000269335, ENSP00000483825, ENST00000618670, ENST00000594239, ENSP00000478616, ENST00000611071, ENST00000611176

Pharos - Targets

Q9Y6K9

ZINC - Predictions - Purchasable

NEMO_HUMAN

Orphanet

16252

Interactors (69)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O14920 IKBKB	3	IKBKB [cytosol] (R-HSA-168114) p-S177,S181-IKBKB [cytosol] (R-HSA-202506) IKBKB Q432Pfs*62 [cytosol] (R-HSA-9628518)	0.981	37
UniProt:O15111 CHUK	3	CHUK [cytosol] (R-HSA-168104) p-S176,S180-CHUK [cytosol] (R-HSA-177667) p-T23-CHUK [cytosol] (R-HSA-198615)	0.97	28
UniProt:Q13546 RIPK1	13	K48polyUb-RIPK1 [cytosol] (R-HSA-6783308) PolyUb-RIPK1 [cytosol] (R-HSA-6783197) RIPK1 D324N [cytosol] (R-HSA-9693930) RIPK1 D324Y [cytosol] (R-HSA-9693931) RIPK1 D324V [cytosol] (R-HSA-9693927) RIPK1 D324H [cytosol] (R-HSA-9693922) RIPK1 [plasma membrane] (R-HSA-937073) RIPK1(1-324) [cytosol] (R-HSA-5212664) RIPK1(325-671) [cytosol] (R-HSA-5212671) p-S166-RIPK1 [cytosol] (R-HSA-5218872) K63polyUb-RIPK1 [cytosol] (R-HSA-937021) RIPK1 [endosome membrane] (R-HSA-450326) RIPK1 [cytosol] (R-HSA-168651)	0.893	9
UniProt:Q9Y6K9 IKBKG	12	monoSUMO1-K277,K309-IKBKG [nucleoplasm] (R-HSA-4755449) IKBKG [nucleoplasm] (R-HSA-4755413) IKBKG D406V [cytosol] (R-HSA-5262943) IKBKG L153R [cytosol] (R-HSA-5262879) IKBKG E391* [cytosol] (R-HSA-5262924) IKBKG C417R [cytosol] (R-HSA-5262858) IKBKG R173G [cytosol] (R-HSA-5262966) IKBKG R175P [cytosol] (R-HSA-5262916) IKBKG 420Wro447 [cytosol] (R-HSA-5262978) K63polyUb-NEMO [cytosol] (R-HSA-202530) Ub-285-IKBKG [cytosol] (R-HSA-741397) IKBKG [cytosol] (R-HSA-168108)	0.878	10
UniProt:Q9BYM8 RBCK1	1	RBCK1 [cytosol] (R-HSA-976018)	0.858	9
UniProt:P25963 NFKBIA	10	PolyUb-NFKBIA [cytosol] (R-HSA-6782960) monoSUMO1-K21-NFKBIA [nucleoplasm] (R-HSA-4656935) NFKBIA [nucleoplasm] (R-HSA-4656929) NFKBIA [cytosol] (R-HSA-168151) p-S32,S36-NFKBIA [cytosol] (R-HSA-177677) K48PolyUb-K21,22-p-S32,S36-IkBA [cytosol] (R-HSA-5607659) Ub-K21,22-p-S32,S36-NFKBIA [cytosol] (R-HSA-1168581) NFKBIA S32I [cytosol] (R-HSA-5228846) NFKBIA F2_M37del [cytosol] (R-HSA-9630119) NFKBIA M37K [cytosol] (R-HSA-5228805)	0.845	6
IntAct:EBI-4399559 UBIQ			0.829	8
UniProt:Q9H0F6 SHARPIN	1	SHARPIN [cytosol] (R-HSA-5212666)	0.818	14
UniProt:P21580 TNFAIP3	1	TNFAIP3 [cytosol] (R-HSA-688989)	0.813	6
UniProt:Q16543 CDC37	1	CDC37 [cytosol] (R-HSA-1221609)	0.802	6
UniProt:O95999 BCL10	3	K48polyUb-BCL10 [cytosol] (R-HSA-8939329) BCL10 [cytosol] (R-HSA-202447) p-BCL10 [cytosol] (R-HSA-202488)	0.789	7
UniProt:Q96EP0 RNF31	1	RNF31 [cytosol] (R-HSA-5212660)	0.773	10
UniProt:Q8NFZ5 TNIP2	1	TNIP2 [cytosol] (R-HSA-451661)	0.764	8
UniProt:P0CG48 UBC	20	UBC(381-456) [endocytic vesicle membrane] (R-HSA-939218) UBC(533-608) [endocytic vesicle membrane] (R-HSA-939220) UBC(609-684) [endocytic vesicle membrane] (R-HSA-939223) UBC(457-532) [endocytic vesicle membrane] (R-HSA-939195) UBC(153-228) [endocytic vesicle membrane] (R-HSA-939194) UBC(305-380) [endocytic vesicle membrane] (R-HSA-939228) UBC(229-304) [endocytic vesicle membrane] (R-HSA-939177) UBC(77-152) [endocytic vesicle membrane] (R-HSA-939210) UBC(1-76) [endocytic vesicle membrane] (R-HSA-939245) Ub-566-UBC(533-608) [mitochondrial outer membrane] (R-HSA-6783166) Ub-338-UBC(305-380) [mitochondrial outer membrane] (R-HSA-6783121) Ub-186-UBC(153-228) [mitochondrial outer membrane] (R-HSA-6783154) Ub-262-UBC(229-304) [mitochondrial outer membrane] (R-HSA-6783028) Ub-414-UBC(381-456) [mitochondrial outer membrane] (R-HSA-6783061) Ub-110-UBC(77-152) [mitochondrial outer membrane] (R-HSA-6783158) Ub-642-UBC(609-684) [mitochondrial outer membrane] (R-HSA-6783182) Ub-33-UBC(1-76) [mitochondrial outer membrane] (R-HSA-6783073) Ub-488-UBC(457-532) [mitochondrial outer membrane] (R-HSA-6783078) Ub-291-UBC(229-304) [mitochondrial outer membrane] (R-HSA-6783193) Ub-595-UBC(533-608) [mitochondrial outer membrane] (R-HSA-6783130)	0.75	4
UniProt:Q15025 TNIP1	1	TNIP1 [cytosol] (R-HSA-5690853)	0.709	6
UniProt:Q9UHD2 TBK1	4	pS-172,K48polyUb-TBK1 [cytosol] (R-HSA-3249397) p-TBK1 [cytosol] (R-HSA-9008705) p-S172-TBK1 [cytosol] (R-HSA-168379) TBK1 [cytosol] (R-HSA-166267)	0.702	4
IntAct:EBI-15701099 IKKALPHA/BETA			0.695	6
UniProt:Q99558 MAP3K14	5	p-T559-MAP3K14 [cytosol] (R-HSA-5668531) K48polyUb-NIK [cytosol] (R-HSA-5668525) Active NIK [cytosol] (R-HSA-5607646) MAP3K14 [cytosol] (R-HSA-168189) p-MAP3K14 [cytosol] (R-HSA-168187)	0.669	4
UniProt:P08238 HSP90AB1	6	HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [nucleoplasm] (R-HSA-5082399) HSP90AB1 [lysosomal lumen] (R-HSA-9622846)	0.669	4
UniProt:P01375 TNF	5	TNF(52-76) [extracellular region] (R-HSA-8863375) TNF(1-34) [plasma membrane] (R-HSA-8863367) TNF(1-76) [plasma membrane] (R-HSA-8863120) TNF(77-233) [extracellular region] (R-HSA-976821) TNF(1-233) [plasma membrane] (R-HSA-66220)	0.669	3
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.666	4
UniProt:Q9UDY8 MALT1	1	MALT1 [cytosol] (R-HSA-202461)	0.656	4
UniProt:P67775 PPP2CA	4	MeL-PPP2CA [nucleoplasm] (R-HSA-8857791) PPP2CA [cytosol] (R-HSA-165971) PPP2CA [nucleoplasm] (R-HSA-165978) p-Y307-PPP2CA [cytosol] (R-HSA-8857939)	0.641	4
UniProt:P24941 CDK2	5	p-Y15-CDK2 [nucleoplasm] (R-HSA-187905) p-CDK2 [nucleoplasm] (R-HSA-68370) CDK2 [cytosol] (R-HSA-157440) CDK2 [nucleoplasm] (R-HSA-68365) p-T160-CDK2 [nucleoplasm] (R-HSA-187967)	0.633	4
UniProt:Q14161 GIT2	1	GIT2 [cytosol] (R-HSA-446034)	0.618	6
UniProt:Q8VSC3 IPA9			0.616	8
UniProt:P33993 MCM7	1	MCM7 [nucleoplasm] (R-HSA-68555)	0.609	2
UniProt:P24772 B14			0.597	3
UniProt:Q9HC62 SENP2	1	SENP2 [nucleoplasm] (R-HSA-2984298)	0.581	3
UniProt:P21579 SYT1	7	SYT1 [clathrin-coated endocytic vesicle membrane] (R-HSA-8869113) SYT1 [clathrin-sculpted acetylcholine transport vesicle membrane] (R-HSA-210536) SYT1 [clathrin-sculpted glutamate transport vesicle membrane] (R-HSA-372514) SYT1 [synaptic vesicle membrane] (R-HSA-194789) SYT1 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane] (R-HSA-917741) SYT1 [plasma membrane] (R-HSA-168786) SYT1 [clathrin-sculpted monoamine transport vesicle membrane] (R-HSA-372508)	0.581	3
UniProt:P05937 CALB1	1	CALB1 [cytosol] (R-HSA-2980899)	0.581	3
UniProt:Q9UBF6 RNF7	1	RNF7 (RBX2) [cytosol] (R-HSA-8863132)	0.581	3
UniProt:P05783 KRT18	1	KRT18 [cytosol] (R-HSA-201582)	0.57	3
UniProt:P63261 ACTG1	3	ACTG1 [cytosol] (R-HSA-201858) ACTG1 [lysosomal membrane] (R-HSA-196169) ACTG1 [plasma membrane] (R-HSA-196044)	0.564	2
UniProt:P07900 HSP90AA1	8	HSP90AA1 [endocytic vesicle lumen] (R-HSA-3221912) HSP90AA1 [secretory granule lumen] (R-HSA-6801515) HSP90AA1 [extracellular region] (R-HSA-3221946) HSP90AA1 [ficolin-1-rich granule lumen] (R-HSA-6801470) HSP90AA1 [plasma membrane] (R-HSA-534996) HSP90AA1 [nucleoplasm] (R-HSA-5082401) HSP90AA1 [cytosol] (R-HSA-192864) HSP90AA1 [lysosomal lumen] (R-HSA-9622850)	0.564	3
UniProt:P63165 SUMO1	11	lysyl-G97-SUMO1 [plasma membrane] (R-HSA-9762382) lysyl-G97-SUMO1 [nucleolus] (R-HSA-9762385) lysyl-G97-SUMO1 [viral capsid] (R-HSA-9762386) UBE2I-G97-SUMO1 [cytosol] (R-HSA-4656941) lysyl-G97-SUMO1 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9762380) lysyl-G97-SUMO1 [cytosol] (R-HSA-9762266) SUMO1(2-101) [nucleoplasm] (R-HSA-2990831) SUMO1 [nucleoplasm] (R-HSA-877304) UBA2-G97-SUMO1 [nucleoplasm] (R-HSA-3730616) UBE2I-G97-SUMO1 [nucleoplasm] (R-HSA-3730622) lysyl-G97-SUMO1 [nucleoplasm] (R-HSA-9761562)	0.564	3
UniProt:Q2TBE0 C19L2			0.556	3
UniProt:Q99633 PRP18			0.556	3
UniProt:P28074 PSMB5	2	PSMB5 [nucleoplasm] (R-HSA-174344) PSMB5 [cytosol] (R-HSA-68753)	0.556	3
UniProt:Q9H0I2 ENKD1			0.556	3
UniProt:Q04712 RRN11			0.556	3
UniProt:P0DTD1-PRO_0000449631 REP			0.556	3
UniProt:Q96PV6 LENG8			0.556	3
UniProt:Q7Z4H3 HDDC2			0.556	3
UniProt:O95391 SLU7	1	hSLU7 [nucleoplasm] (R-HSA-72073)	0.556	3
UniProt:Q96SQ5 ZNF587	1	ZNF587 [nucleoplasm] (R-HSA-2127565)	0.556	3
UniProt:Q9UJX0 OSGI1			0.556	3
UniProt:Q92917 GPKOW	1	GPKOW [nucleoplasm] (R-HSA-8850839)	0.556	3
UniProt:Q9Y2X8 UBE2D4	1	UBE2D4 [cytosol] (R-HSA-947623)	0.556	3
UniProt:Q9Y2P0 ZN835			0.556	3
UniProt:P04083 ANXA1	2	ANXA1 [cytosol] (R-HSA-5263630) ANXA1 [extracellular region] (R-HSA-444539)	0.556	6
UniProt:P00533 EGFR	20	p-6Y-EGFR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869138) p-5Y-EGFRvIII [plasma membrane] (R-HSA-1248649) EGFRvIII [plasma membrane] (R-HSA-1214162) p-6Y-EGFR E746_A750del;T790M [plasma membrane] (R-HSA-1182985) p-6Y-EGFR L858R;T790M [plasma membrane] (R-HSA-1182984) p-6Y-EGFR M766_A767insASV [plasma membrane] (R-HSA-1996343) p-6Y-EGFR D770_N771insNPH [plasma membrane] (R-HSA-1996342) p-6Y-EGFR V738_K739insKIPVAI [plasma membrane] (R-HSA-1996346) p-6Y-EGFR D770_N771insNPG [plasma membrane] (R-HSA-1996335) p-6Y-EGFR E746_A750del [plasma membrane] (R-HSA-1181214) p-6Y-EGFR L858R [plasma membrane] (R-HSA-1173211) p-6Y-EGFR G719S [plasma membrane] (R-HSA-1169417) p-6Y-EGFR L747_P753delinsS [plasma membrane] (R-HSA-1228038) p-6Y-EGFR L747_A750delinsP [plasma membrane] (R-HSA-1228044) p-6Y-EGFR L747_T751del [plasma membrane] (R-HSA-1228041) p-6Y-EGFR L747_S752del [plasma membrane] (R-HSA-1228040) p-6Y-EGFR L747_T751delinsP [plasma membrane] (R-HSA-1228042) p-6Y-EGFR E746_T751delinsA [plasma membrane] (R-HSA-1228037) p-6Y-EGFR E746_S752delinsV [plasma membrane] (R-HSA-1228039) p-6Y-EGFR L861Q [plasma membrane] (R-HSA-1177541)	0.553	2
UniProt:Q9NQC7 CYLD	2	p-S418-CYLD [cytosol] (R-HSA-5212667) CYLD [cytosol] (R-HSA-741420)	0.547	2
UniProt:Q92844 TANK	2	TANK [cytosol] (R-HSA-933407) K63polyUb-TANK [cytosol] (R-HSA-5362480)	0.547	5
UniProt:Q13490 BIRC2	5	K63polyUb-BIRC2 [cytosol] (R-HSA-5668512) BIRC2(1-372) [cytosol] (R-HSA-202913) BIRC2(373-618) [cytosol] (R-HSA-202931) K48pUb-BIRC2 [cytosol] (R-HSA-5675479) BIRC2 [cytosol] (R-HSA-50847)	0.527	3
UniProt:Q13158 FADD	1	FADD [cytosol] (R-HSA-54639)	0.527	2
UniProt:Q5D1E8 ZC12A			0.524	2
UniProt:Q13315 ATM	5	ATM [nucleoplasm] (R-HSA-69484) Ac-K3016-ATM [nucleoplasm] (R-HSA-5682043) p-S1981,Ac-K3016-ATM [nucleoplasm] (R-HSA-5693527) ATM [peroxisomal matrix] (R-HSA-9665169) ATM [cytosol] (R-HSA-9665171)	0.524	4
UniProt:Q13501 SQSTM1	7	SQSTM1(2-251)-p-7Y ALK(1058-1620) fusion [cytosol] (R-HSA-9711967) SQSTM1(2-251)-ALK(1058-1620) fusion [cytosol] (R-HSA-9711954) K7 ub-SQSTM1 [cytosol] (R-HSA-9759088) p-S349 SQSTM1 [cytosol] (R-HSA-9766524) ub K420 p-S349 SQSTM1 [cytosol] (R-HSA-9766536) SQSTM1 [nucleoplasm] (R-HSA-210961) SQSTM1 [cytosol] (R-HSA-193937)	0.524	2
UniProt:P05787 KRT8	1	KRT8 [cytosol] (R-HSA-446043)	0.508	2
UniProt:Q9UNS2 COPS3	2	COPS3 [cytosol] (R-HSA-416973) COPS3 [nucleoplasm] (R-HSA-5697017)	0.508	2
UniProt:Q4VCS5 AMOT			0.499	3
UniProt:Q9BVN2-2 RUSC1			0.499	4
UniProt:P12931 SRC	6	SRC [cytosol] (R-HSA-9628701) p-Y416-SRC [cytosol] (R-HSA-8964276) p-Y419-SRC [nucleoplasm] (R-HSA-8937690) MyrG-SRC [plasma membrane] (R-HSA-8876922) MyrG,p-Y530-SRC [plasma membrane] (R-HSA-377598) MyrG-p-Y419-SRC [plasma membrane] (R-HSA-1810408)	0.499	3
UniProt:Q13535 ATR	1	ATR [nucleoplasm] (R-HSA-912443)	0.499	2
UniProt:Q9NYJ8 TAB2	4	TAB2 [cytosol] (R-HSA-168117) TAB2 [endosome membrane] (R-HSA-450279) TAB2 [plasma membrane] (R-HSA-168116) TAB2 [nucleoplasm] (R-HSA-1253323)	0.488	2
UniProt:P19838 NFKB1	8	NFKB1(1-968) [specific granule lumen] (R-HSA-6799557) NFKB1(1-968) [extracellular region] (R-HSA-6806304) NFKB1(1-968) [secretory granule lumen] (R-HSA-6801004) NFKB1(1-433) [cytosol] (R-HSA-168168) NFKB1(1-433) [nucleoplasm] (R-HSA-177655) NFKB1(1-968) [cytosol] (R-HSA-451607) p-S927,S932-NFKB1(1-968) [cytosol] (R-HSA-451611) 3xUb-p-S927,S932-NFKB1(1-968) [cytosol] (R-HSA-451619)	0.483	2
UniProt:P01106 MYC	2	PolyUb-MYC [nucleoplasm] (R-HSA-6783169) MYC [nucleoplasm] (R-HSA-188379)	0.463	3
UniProt:P0DTD2 9b	2	p-S53-9b [cytosol] (R-COV-9758478) 9b [mitochondrial outer membrane] (R-COV-9709803)	0.463	3

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