Reactome | IKBKB Q432Pfs*62 [cytosol]

IKBKB Q432Pfs*62 [cytosol]

Stable Identifier

R-HSA-9628518

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

IKK-beta Q432Pfs*62, Inhibitor of nuclear factor kappa B kinase beta subunit

Icon

Locations in the PathwayBrowser

Expand all

Literature References

PubMed ID	Title	Journal	Year
24369075	Deficiency of innate and acquired immunity caused by an IKBKB mutation Pannicke, U, Baumann, B, Fuchs, S, Henneke, P, Rensing-Ehl, A, Rizzi, M, Janda, A, Hese, K, Schlesier, M, Holzmann, K, Borte, S, Laux, C, Rump, EM, Rosenberg, A, Zelinski, T, Schrezenmeier, H, Wirth, T, Ehl, S, Schroeder, ML, Schwarz, K	N. Engl. J. Med.	2013

External Reference Information

External Reference

UniProt:O14920 IKBKB

Gene Names

IKBKB, IKKB

Chain

chain:1-756

Reference Genes

BioGPS Gene:3551 IKBKB

COSMIC (genes):IKBKB IKBKB

CTD Gene:3551 IKBKB

dbSNP Gene:3551 IKBKB

ENSEMBL:ENSG00000104365 IKBKB

HGNC:5960 IKBKB

KEGG:hsa:3551 IKBKB

Monarch:3551 IKBKB

NCBI Gene:3551 IKBKB

OMIM:603258 IKBKB

UCSC:O14920 IKBKB

Reference Transcript

Other Identifiers

11730928_a_at

11730929_s_at

11730930_a_at

11745356_a_at

11746063_a_at

11746648_a_at

11750345_a_at

11752235_x_at

11753155_x_at

11755411_a_at

11755412_x_at

17068462

209341_PM_s_at

209341_s_at

209342_PM_s_at

209342_s_at

211027_3p_s_at

211027_PM_s_at

211027_s_at

3096093

3096094

3096095

3096096

3096097

3096103

3096105

3096108

3096109

3096118

3096119

3096123

3096125

3096126

3096127

3096128

3096129

3096130

3096131

3096132

3096133

3096134

3096135

3096136

3096137

3096138

3096139

3096140

3096141

3096142

3096143

3096144

3096145

3096146

3096147

3096148

3096149

3096150

3096151

3096153

3096154

3096155

3096156

3096157

3096158

3096159

3096160

3096161

3096162

3096163

3096164

3551

35960_at

44812_at

54675_at

54679_g_at

65461_r_at

8146171

A_23_P216188

A_24_P132518

A_24_P155058

A_33_P3241756

GE62527

GE781692

GO:0000166

GO:0000209

GO:0002221

GO:0002223

GO:0002376

GO:0002479

GO:0002755

GO:0003824

GO:0004672

GO:0004674

GO:0005515

GO:0005524

GO:0005634

GO:0005737

GO:0005829

GO:0006355

GO:0006357

GO:0006468

GO:0006954

GO:0007249

GO:0008384

GO:0008385

GO:0009615

GO:0009898

GO:0010604

GO:0010803

GO:0016020

GO:0016301

GO:0016740

GO:0018105

GO:0019901

GO:0023019

GO:0033209

GO:0034121

GO:0034138

GO:0035631

GO:0035666

GO:0038061

GO:0038095

GO:0042802

GO:0042803

GO:0043123

GO:0043124

GO:0045087

GO:0045121

GO:0045893

GO:0045944

GO:0046982

GO:0050852

GO:0051092

GO:0051403

GO:0051604

GO:0070498

GO:0071356

GO:0072659

GO:0097110

GO:0098542

GO:0106310

GO:0140096

GO:1900016

GO:1903140

GO:1903347

GO:1990459

HMNXSV003011838

HMNXSV003029800

HMNXSV003035882

HMNXSV003057127

Hs.226573.0.S3_3p_a_at

Hs.226573.0.S3_3p_x_at

ILMN_1727142

ILMN_2172588

PH_hs_0024951

TC08000325.hg

TC08001896.hg

g13623262_3p_at

g13623262_3p_x_at

g4185274_3p_a_at

p33839

Participates

as an input of

Defective IKBKB (IKK2) does not form a complex with IKBKA and IKBKG (Homo sapiens)

Other forms of this molecule

IKBKB [cytosol]

p-S177,S181-IKBKB [cytosol]

Modified Residues

Name

Replacement of residues 432 to 493

Disease

Name	Identifier	Synonyms
severe combined immunodeficiency	DOID:627	Severe combined immunodeficiency, combined T and B cell inborn immunodeficiency, SCID, Severe combined immunodeficiency disease (disorder), SCID

Cross References

RefSeq

NP_001177649.1, NP_001229707.1, NP_001547.1, XP_054216403.1, XP_047277713.1

ZINC - World Drugs

IKKB_HUMAN

Guide to Pharmacology - Targets

2039

OpenTargets

ENSG00000104365

ENSEMBL

ENST00000520810, ENSG00000104365, ENSP00000430684

Mondo

0015974

ZINC - FDA approved

IKKB_HUMAN

ZINC - Substances

IKKB_HUMAN

ZINC - Biogenic

IKKB_HUMAN

ZINC target

O14920

PRO

O14920

GlyGen

O14920

PDB

3BRT, 3BRV, 4E3C, 8OMV, 4KIK

ZINC - Investigational

IKKB_HUMAN

IntEnz

2.7.11.10

GeneCards

IKBKB

HPA

ENSG00000104365-IKBKB

Pharos - Targets

O14920

Orphanet

IKBKB

ZINC - Predictions - Purchasable

IKKB_HUMAN

HMDB Protein

HMDBP01302

Interactors (33)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9Y6K9 IKBKG	12	IKBKG [cytosol] (R-HSA-168108) Ub-285-IKBKG [cytosol] (R-HSA-741397) K63polyUb-IKBKG [cytosol] (R-HSA-202530) IKBKG [nucleoplasm] (R-HSA-4755413) monoSUMO1-K277,K309-IKBKG [nucleoplasm] (R-HSA-4755449) IKBKG 420Wext447 [cytosol] (R-HSA-5262978) IKBKG R175P [cytosol] (R-HSA-5262916) IKBKG R173G [cytosol] (R-HSA-5262966) IKBKG C417R [cytosol] (R-HSA-5262858) IKBKG E391* [cytosol] (R-HSA-5262924) IKBKG L153R [cytosol] (R-HSA-5262879) IKBKG D406V [cytosol] (R-HSA-5262943)	0.983	41
UniProt:P25963 NFKBIA	9	NFKBIA [cytosol] (R-HSA-168151) p-S32,S36-NFKBIA [cytosol] (R-HSA-177677) Ub-K21,22-p-S32,S36-NFKBIA [cytosol] (R-HSA-1168581) NFKBIA [nucleoplasm] (R-HSA-4656929) monoSUMO1-K21-NFKBIA [nucleoplasm] (R-HSA-4656935) NFKBIA S32I [cytosol] (R-HSA-5228846) NFKBIA F2_M37del [cytosol] (R-HSA-9630119) NFKBIA M37K [cytosol] (R-HSA-5228805) PolyUb-NFKBIA [cytosol] (R-HSA-6782960)	0.969	27
UniProt:O15111 CHUK	4	CHUK [cytosol] (R-HSA-168104) p-S176,S180-CHUK [cytosol] (R-HSA-177667) p-T23-CHUK [cytosol] (R-HSA-198615) p-Y187,Y198-CHUK [cytosol] (R-HSA-9861501)	0.956	21
UniProt:Q99558 MAP3K14	5	Active NIK [cytosol] (R-HSA-5607646) MAP3K14 [cytosol] (R-HSA-168189) p-MAP3K14 [cytosol] (R-HSA-168187) K48polyUb-NIK [cytosol] (R-HSA-5668525) p-T559-MAP3K14 [cytosol] (R-HSA-5668531)	0.904	7
UniProt:O14920 IKBKB	3	IKBKB [cytosol] (R-HSA-168114) p-S177,S181-IKBKB [cytosol] (R-HSA-202506) IKBKB Q432Pfs*62 [cytosol] (R-HSA-9628518)	0.869	9
UniProt:Q16543 CDC37	1	CDC37 [cytosol] (R-HSA-1221609)	0.848	8
UniProt:P19838 NFKB1	8	3xUb-p-S927,S932-NFKB1(1-968) [cytosol] (R-HSA-451619) p-S927,S932-NFKB1(1-968) [cytosol] (R-HSA-451611) NFKB1(1-968) [cytosol] (R-HSA-451607) NFKB1(1-433) [nucleoplasm] (R-HSA-177655) NFKB1(1-433) [cytosol] (R-HSA-168168) 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)	0.773	4
UniProt:Q04206 RELA	7	RELA [nucleoplasm] (R-HSA-177676) RELA [cytosol] (R-HSA-168172) p-S276-RELA [nucleoplasm] (R-HSA-5624468) p-S276,5xAcK-RELA [nucleoplasm] (R-HSA-5660642) polySUMO3-K37,K122,K123-RELA [nucleoplasm] (R-HSA-4755466) p-S536-RELA [nucleoplasm] (R-HSA-9861499) MeK310-RELA [nucleoplasm] (R-HSA-8865233)	0.755	4
UniProt:P04637 TP53	20	Unfolded TP53 [cytosol] (R-HSA-6813797) TP53 [cytosol] (R-HSA-8869337) PolyUb-TP53 [nucleoplasm] (R-HSA-6782509) polySUMO2,3-K386-TP53 [nucleoplasm] (R-HSA-2997661) TP53 F341C [nucleoplasm] (R-HSA-9726318) TP53 G334V [nucleoplasm] (R-HSA-9726126) TP53 L330H [nucleoplasm] (R-HSA-9726124) TP53 A347T [nucleoplasm] (R-HSA-9726339) TP53 R337C [nucleoplasm] (R-HSA-9726118) TP53 L344P [nucleoplasm] (R-HSA-9726075) TP53 L344R [nucleoplasm] (R-HSA-9726073) TP53 R337H [nucleoplasm] (R-HSA-9726169) TP53 R337P [nucleoplasm] (R-HSA-9726168) TP53 L330P [nucleoplasm] (R-HSA-9726136) TP53 L348S [nucleoplasm] (R-HSA-9726366) TP53 R337L [nucleoplasm] (R-HSA-9726163) TP53 K351E [nucleoplasm] (R-HSA-9726258) TP53 F338I [nucleoplasm] (R-HSA-9726358) TP53 R342P [nucleoplasm] (R-HSA-9726101) TP53 L330R [nucleoplasm] (R-HSA-9726133)	0.692	3
UniProt:O43318 MAP3K7	10	p-T184,T187-MAP3K7 [cytosol] (R-HSA-202527) MAP3K7 [cytosol] (R-HSA-168156) p-T184,T187-MAP3K7 [endosome membrane] (R-HSA-450332) MAP3K7 [endosome membrane] (R-HSA-450315) p-MAP3K7 [cytosol] (R-HSA-168163) K63polyUb-34,158-TAK1 [cytosol] (R-HSA-5607643) K63polyUb-34,158-p-T178,184,187,S192-TAK1 [cytosol] (R-HSA-5607649) p-T187-MAP3K7 [cytosol] (R-HSA-206014) MAP3K7 [plasma membrane] (R-HSA-9012677) PolyUb-MAP3K7 [cytosol] (R-HSA-6782968)	0.657	6
UniProt:Q13451 FKBP5	2	FKBP5 [nucleoplasm] (R-HSA-8939165) FKBP5 [cytosol] (R-HSA-5618096)	0.643	4
UniProt:P67775 PPP2CA	4	PPP2CA [cytosol] (R-HSA-165971) PPP2CA [nucleoplasm] (R-HSA-165978) p-Y307-PPP2CA [cytosol] (R-HSA-8857939) MeL-PPP2CA [nucleoplasm] (R-HSA-8857791)	0.641	3
UniProt:Q9UGK3 STAP2	2	p-Y250-STAP2 [plasma membrane] (R-HSA-8848079) STAP2 [cytosol] (R-HSA-8848028)	0.623	7
UniProt:P24772 PG200			0.623	3
UniProt:Q92574 TSC1	2	TSC1 [cytosol] (R-HSA-5672338) TSC1 [plasma membrane] (R-HSA-165169)	0.611	3
UniProt:Q14145 KEAP1	3	KEAP1 [cytosol] (R-HSA-976038) ub-KEAP1 [cytosol] (R-HSA-9766647) Ub-KEAP1 [cytosol] (R-HSA-6782766)	0.61	6
UniProt:P23396 RPS3	2	RPS3 [cytosol] (R-HSA-72369) RPS3 [nucleoplasm] (R-HSA-6798714)	0.602	4
UniProt:P15056 BRAF	20	p-S,T-BRAF [cytosol] (R-HSA-169856) BRAF(1-380)-MACF1(600-7388)fusion [cytosol] (R-HSA-6802402) p-BRAF(1-380)-MACF1(600-7388) fusion [cytosol] (R-HSA-6802536) BRAF E501G [cytosol] (R-HSA-9651132) BRAF D594N [cytosol] (R-HSA-6802299) BRAF D638E [cytosol] (R-HSA-9651125) BRAF G596R [cytosol] (R-HSA-6802385) BRAF D594V [cytosol] (R-HSA-6802305) BRAF G596V [cytosol] (R-HSA-9651138) BRAF G466E [cytosol] (R-HSA-6802374) BRAF D594G [cytosol] (R-HSA-6802295) BRAF L505H [cytosol] (R-HSA-9648845) BRAF F595L [cytosol] (R-HSA-6802316) BRAF L597V [cytosol] (R-HSA-6802397) BRAF G464E [cytosol] (R-HSA-6802369) BRAF N581D [cytosol] (R-HSA-9651152) BRAF E586K [cytosol] (R-HSA-6802308) BRAF V600K [cytosol] (R-HSA-6802502) BRAF A246P [cytosol] (R-HSA-9651123) BRAF G469V [cytosol] (R-HSA-9648620)	0.596	5
UniProt:Q5D1E7	1	Zc3h12a [nucleoplasm] (R-MMU-9774235)	0.591	4
UniProt:P03409 TAX			0.589	3
UniProt:P0DTC9 N	13	SUMO1-K62-ADPr-p-11S,2T-metR95,177-N [cytosol] (R-COV-9729340) SUMO1-K62-ADPr-p-11S,2T-metR95,177-N [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-COV-9729341) ADPr-p-11S,2T-metR95,177-N [cytosol] (R-COV-9729275) p-11S,2T-metR95,177-N [cytosol] (R-COV-9729308) p-11S,2T-N [cytosol] (R-COV-9729264) p-8S,2T-N [cytosol] (R-COV-9729277) p-8S-N [cytosol] (R-COV-9729335) p-S188,206-N [cytosol] (R-COV-9729324) N [cytosol] (R-COV-9694300) SUMO1-K62,ADPr-,p-11S,2T,met-R95,177,Ac-K375-N [cytosol] (R-COV-9756489) N [plasma membrane] (R-COV-9694356) SUMO1-K62-ADPr-p-11S,2T-metR95,177-N [nucleolus] (R-COV-9729339) SUMO1-K62-ADPr-p-11S,2T-metR95,177-N [plasma membrane] (R-COV-9729325)	0.581	7
UniProt:Q15653 NFKBIB	3	NFKBIB [cytosol] (R-HSA-168132) p-S19,S23-NFKBIB [cytosol] (R-HSA-177670) p-S19,S23-Ub-NFKBIB [cytosol] (R-HSA-1168571)	0.564	2
UniProt:Q7Z434 MAVS	2	MAVS [mitochondrial outer membrane] (R-HSA-913730) K48polyUb-MAVS [mitochondrial outer membrane] (R-HSA-983463)	0.564	2
UniProt:O14965 AURKA	6	p-T288-AURKA [cytosol] (R-HSA-2574832) AURKA [cytosol] (R-HSA-174254) PolyUb-AURKA [cytosol] (R-HSA-8854040) AURKA [nucleoplasm] (R-HSA-4655443) p-T288-AURKA [nucleoplasm] (R-HSA-6805089) SUMO1-K258-AURKA [cytosol] (R-HSA-4655367)	0.544	2
UniProt:P08238 HSP90AB1	6	HSP90AB1 [lysosomal lumen] (R-HSA-9622846) HSP90AB1 [nucleoplasm] (R-HSA-5082399) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491)	0.536	3
UniProt:Q00610 CLTC	10	CLTC [plasma membrane] (R-HSA-2980668) CLTC [lysosomal membrane] (R-HSA-2980660) CLTC [clathrin-coated endocytic vesicle membrane] (R-HSA-5138450) CLTC [endolysosome membrane] (R-HSA-8870827) CLTC [cytosol] (R-HSA-8856820) CLTC(2-1634)insV-ALK(1059-1620) fusion [cytosol] (R-HSA-9710853) CLTC(2-1634)insDGVSSVTQAGVQWRDLGSLQPSRARLPGHVAADHPPA-p-7Y-ALK(1058-1620) fusion [cytosol] (R-HSA-9710835) CLTC(2-1634)insV-p-7Y-ALK(1059-1620) fusion [cytosol] (R-HSA-9710854) CLTC(2-1634)insDGVSSVTQAGVQWRDLGSLQPSRARLPGHVAADHPPA-ALK(1058-1620) fusion [cytosol] (R-HSA-9710852) CLTC [trans-Golgi network membrane] (R-HSA-5333703)	0.536	2
UniProt:Q86WI3 NLRC5	2	NLRC5 [cytosol] (R-HSA-937324) K63polyUb-NLRC5 [cytosol] (R-HSA-9750938)	0.524	2
UniProt:Q9ULZ3 PYCARD	4	PYCARD [cytosol] (R-HSA-561191) PYCARD [azurophil granule lumen] (R-HSA-6798768) PYCARD [extracellular region] (R-HSA-6806196) PYCARD [secretory granule lumen] (R-HSA-6800957)	0.512	4
UniProt:Q70UQ0 IKBIP	1	IKBIP [endoplasmic reticulum membrane] (R-HSA-9749482)	0.499	3
UniProt:Q9UKE5 TNIK	1	TNIK [cytosol] (R-HSA-3214889)	0.499	2
UniProt:P03230 LMP1			0.499	2
UniProt:Q12933 TRAF2	5	TRAF2 [cytosol] (R-HSA-66370) PolyUb-TRAF2 [cytosol] (R-HSA-6782848) K63polyUb-TRAF2 [cytosol] (R-HSA-8862193) K63polyUb-TRAF2 [nucleoplasm] (R-HSA-8862194) TRAF2 [nucleoplasm] (R-HSA-8862199)	0.483	2
UniProt:Q92793 CREBBP	4	CREBBP [nucleoplasm] (R-HSA-193545) CREBBP [cytosol] (R-HSA-9756493) FOXO4-S-S-CREBBP [nucleoplasm] (R-HSA-9617684) monoSUMO1-K998,K1033,K1056-CREBBP [nucleoplasm] (R-HSA-3927877)	0.483	2

Cite Us!