IKBKB Q432Pfs*62 [cytosol]

Stable Identifier
R-HSA-9628518
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
IKK-beta Q432Pfs*62, Inhibitor of nuclear factor kappa B kinase beta subunit
IKBKB Q432Pfs*62 [cytosol] icon
Locations in the PathwayBrowser for interactor UniProt:P19838 NFKB1
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
Gene Names
IKBKB, IKKB
Chain
chain:1-756
Other Identifiers
0006220619
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_s_at
209342_s_at
211027_3p_s_at
211027_s_at
3096093
3096096
3096103
3096105
3096108
3096118
3096119
3096123
3096129
3096130
3096131
3096133
3096134
3096136
3096137
3096142
3096144
3096145
3096146
3096149
3096153
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
GE62527
GO:0000166
GO:0002223
GO:0002376
GO:0002479
GO:0002756
GO:0003674
GO:0004672
GO:0004674
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005634
GO:0005737
GO:0005829
GO:0005886
GO:0006464
GO:0006468
GO:0006950
GO:0006954
GO:0007010
GO:0007165
GO:0007249
GO:0007252
GO:0008150
GO:0008219
GO:0008384
GO:0008385
GO:0009058
GO:0009615
GO:0009898
GO:0010803
GO:0016020
GO:0016032
GO:0016301
GO:0016310
GO:0016740
GO:0018105
GO:0019899
GO:0019901
GO:0022607
GO:0030154
GO:0030866
GO:0032991
GO:0033209
GO:0034330
GO:0034641
GO:0035509
GO:0035631
GO:0035666
GO:0038095
GO:0042325
GO:0042802
GO:0042803
GO:0043066
GO:0043123
GO:0043167
GO:0043226
GO:0044403
GO:0045087
GO:0045121
GO:0045893
GO:0045944
GO:0046982
GO:0048856
GO:0050852
GO:0051092
GO:0051403
GO:0070498
GO:0071356
GO:0072659
GO:0097110
GO:1903140
GO:1903347
GO:1990459
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
g4185274_3p_a_at
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 432 to 493
Disease
Name Identifier Synonyms
severe combined immunodeficiency 627 Severe combined immunodeficiency, combined T and B cell inborn immunodeficiency, SCID, Severe combined immunodeficiency disease (disorder), SCID
Cross References
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
PDB
ZINC - Investigational
IntEnz
GeneCards
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (27)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9Y6K9 IKBKG  12 0.98 36
 UniProt:P25963 NFKBIA  10 0.969 27
 UniProt:O15111 CHUK  3 0.948 17
 UniProt:O14920 IKBKB  3 0.869 9
 UniProt:Q99558 MAP3K14  5 0.829 5
 UniProt:Q16543 CDC37  1 0.744 4
 UniProt:P19838 NFKB1  8 0.722 3
 UniProt:Q04206 RELA  6 0.692 3
 UniProt:P67775 PPP2CA  4 0.641 3
 UniProt:P24772 B14      0.623 3
 UniProt:Q9UGK3 STAP2  2 0.623 7
 UniProt:Q92574 TSC1  2 0.611 3
 UniProt:Q14145 KEAP1  2 0.61 6
 UniProt:P04637 TP53  27 0.609 2
 UniProt:P23396 RPS3  2 0.602 4
 UniProt:Q5D1E7 ZC12A      0.591 4
 UniProt:P08238 HSP90AB1  6 0.589 3
 UniProt:P03409 TAX      0.589 3
 UniProt:Q00610 CLTC  6 0.589 2
 UniProt:Q7Z434 MAVS  2 0.564 2
 UniProt:Q92793 CREBBP  3 0.564 2
 UniProt:Q12933 TRAF2  5 0.564 2
 UniProt:O14965 AURKA  6 0.544 2
 UniProt:Q86WI3 NLRC5  1 0.524 2
 UniProt:Q9ULZ3 PYCARD  4 0.512 4
 UniProt:P03230 LMP1      0.499 2
 UniProt:Q9UKE5 TNIK  1 0.499 2
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