IKBKG E391* [cytosol]

Stable Identifier
R-HSA-5262924
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
NEMO E391*, IKKG E391X, IKK-gamma-E391X, Inhibitor of nuclear factor kappa-B kinase gamma subunit
IKBKG E391* [cytosol] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
21309033 Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity

Wu, L, Zhao, Y, Jain, A, Hornung, RL, Temmerman, S, Ma, CA, Wara, D, Wang, HY

Hum. Mutat. 2011
15100680 The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

Schneider, LC, Geha, RS, Ballas, ZK, Jain, A, Orange, JS, Bonilla, FA

J. Allergy Clin. Immunol. 2004
External Reference Information
External Reference
Gene Names
IKBKG, FIP3, NEMO
Chain
chain:1-419
Other Identifiers
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
3996552
3996553
3996554
3996556
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:0005515
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005856
GO:0006351
GO:0006355
GO:0006914
GO:0006915
GO:0006954
GO:0006955
GO:0006974
GO:0007249
GO:0008385
GO:0009615
GO:0012501
GO:0016239
GO:0019904
GO:0023052
GO:0031625
GO:0032991
GO:0042802
GO:0042803
GO:0043123
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:0098542
GO:1901215
GO:1990450
GO:1990459
HMNXSV003001956
HMNXSV003012514
ILMN_1707308
PH_hs_0027638
TC0X001541.hg
TC0X001941.hg
g5031140_3p_s_at
Participates
Other forms of this molecule
Modified Residues
Name
Nonsense mutation at L-glutamic acid 391
Coordinate
391
PsiMod
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
primary immunodeficiency disease DOID:612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
Interactors (69)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O14920 IKBKB  3 0.981 37
 UniProt:O15111 CHUK  3 0.97 28
 UniProt:Q13546 RIPK1  20 0.893 9
 UniProt:Q9Y6K9 IKBKG  12 0.878 10
 UniProt:Q9BYM8 RBCK1  1 0.858 9
 UniProt:P25963 NFKBIA  9 0.845 6
 IntAct:EBI-4399559 UBIQ      0.829 8
 UniProt:Q9H0F6 SHARPIN  1 0.818 14
 UniProt:P21580 TNFAIP3  1 0.813 6
 UniProt:Q16543 CDC37  1 0.802 6
 UniProt:O95999 BCL10  3 0.789 7
 UniProt:Q96EP0 RNF31  1 0.773 10
 UniProt:Q8NFZ5 TNIP2  1 0.764 8
 UniProt:P0CG48 UBC  20 0.75 4
 UniProt:Q15025 TNIP1  1 0.709 6
 UniProt:Q9UHD2 TBK1  4 0.702 4
 IntAct:EBI-15701099 IKKALPHA/BETA      0.695 6
 UniProt:Q99558 MAP3K14  5 0.669 4
 UniProt:P01375 TNF  5 0.669 3
 UniProt:P08238 HSP90AB1  6 0.669 4
 UniProt:Q13573 SNW1  1 0.666 4
 UniProt:Q9UDY8 MALT1  1 0.656 4
 UniProt:P67775 PPP2CA  4 0.641 4
 UniProt:P24941 CDK2  5 0.633 4
 UniProt:Q14161 GIT2  1 0.618 6
 UniProt:Q8VSC3 IPA9      0.616 8
 UniProt:P33993 MCM7  1 0.609 2
 UniProt:P24772 PG200      0.597 3
 UniProt:Q9HC62 SENP2  1 0.581 3
 UniProt:P21579 SYT1  7 0.581 3
 UniProt:P05937 CALB1  1 0.581 3
 UniProt:Q9UBF6 RNF7  1 0.581 3
 UniProt:P05783 KRT18  1 0.57 3
 UniProt:P63261 ACTG1  3 0.564 2
 UniProt:P63165 SUMO1  11 0.564 3
 UniProt:P07900 HSP90AA1  8 0.564 3
 UniProt:Q2TBE0 CWF19L2  1 0.556 3
 UniProt:P28074 PSMB5  2 0.556 3
 UniProt:Q9H0I2 ENKD1      0.556 3
 UniProt:Q04712 RRN11      0.556 3
 UniProt:P0DTD1-PRO_0000449631 REP      0.556 3
 UniProt:P04083 ANXA1  2 0.556 6
 UniProt:Q96PV6 LENG8      0.556 3
 UniProt:Q7Z4H3 HDDC2      0.556 3
 UniProt:Q96SQ5 ZNF587  1 0.556 3
 UniProt:Q9UJX0 OSGI1      0.556 3
 UniProt:Q9Y2X8 UBE2D4  1 0.556 3
 UniProt:Q9Y2P0 ZN835      0.556 3
 UniProt:Q92917 GPKOW  1 0.556 3
 UniProt:Q99633 PRPF18  1 0.556 3
 UniProt:O95391 SLU7  1 0.556 3
 UniProt:P00533 EGFR  20 0.553 2
 UniProt:Q92844 TANK  2 0.547 5
 UniProt:Q9NQC7 CYLD  3 0.547 2
 UniProt:Q13158 FADD  1 0.527 2
 UniProt:Q13490 BIRC2  5 0.527 3
 UniProt:Q13501 SQSTM1  7 0.524 2
 UniProt:Q5D1E8 ZC3H12A  1 0.524 2
 UniProt:Q13315 ATM  5 0.524 4
 UniProt:P05787 KRT8  1 0.508 2
 UniProt:Q9UNS2 COPS3  2 0.508 2
 UniProt:Q4VCS5 AMOT      0.499 3
 UniProt:Q9BVN2-2 RUSC1      0.499 4
 UniProt:Q13535 ATR  1 0.499 2
 UniProt:P12931 SRC  6 0.499 3
 UniProt:Q9NYJ8 TAB2  4 0.488 2
 UniProt:P19838 NFKB1  8 0.483 2
 UniProt:P01106 MYC  2 0.463 3
 UniProt:P0DTD2 9b  3 0.463 3
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