IKBKG E391* [cytosol]

Stable Identifier
R-HSA-5262924
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
NEMO E391*, IKKG E391X, IKK-gamma-E391X, Inhibitor of nuclear factor kappa-B kinase gamma subunit
Icon
IKBKG E391* [cytosol] icon
IKBKG E391* [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
15100680 The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

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

J. Allergy Clin. Immunol. 2004
21309033 Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity

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

Hum. Mutat. 2011
External Reference Information
External Reference
UniProt:Q9Y6K9 IKBKG
Gene Names
IKBKG, FIP3, NEMO
Chain
chain:1-419
Reference Genes
BioGPS Gene:8517 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
10373
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_s_at
2JVX
2JVY
36004_3p_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
3BRT
3BRV
3CL3
3FX0
4027476
4027477
4027478
4027479
4027480
4027483
4027484
4027489
4027490
4027492
4027574
426
4BWN
5AAY
5LDE
8170955
8517
A0A087WUW6
A0A087WV30
A0A087WWQ9
A0A087X0G7
A0A087X1B1
A0A087X1K7
A_23_P159920
AAC36330
AAD12183
AAD38081
AAF99679
AAH00299
AAH12114
AAH46922
AAH50612
AAL27012
AAM44073
AAV38427
AF062089
AF074382
AF091453
AF261086
AF277315
AJ271718
AK000593
AY114157
BC000299
BC012114
BC046922
BC050612
BT019621
C9J2V2
C9JCG6
C9JH59
C9JN51
CAB010373
CAB93146
CCDS14757
CCDS48196
CCDS48197
ENSG00000269335
ENSP00000471166
ENSP00000478616
ENSP00000479662
ENSP00000483825
ENST00000594239
ENST00000594239.5
ENST00000611071
ENST00000611071.4
ENST00000611176
ENST00000611176.4
ENST00000618670
ENST00000618670.4
EntrezGene:8517
EntrezGene:IKBKG
g5031140_3p_s_at
GE54691
GO:0000151
GO:0000187
GO:0000922
GO:0002223
GO:0002376
GO:0002479
GO:0002756
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005829
GO:0005856
GO:0006464
GO:0006914
GO:0006915
GO:0006950
GO:0006954
GO:0006955
GO:0006974
GO:0007165
GO:0007249
GO:0007254
GO:0008150
GO:0008219
GO:0008385
GO:0009056
GO:0009058
GO:0009615
GO:0010803
GO:0016032
GO:0016239
GO:0016579
GO:0019899
GO:0019904
GO:0031625
GO:0032182
GO:0032991
GO:0034641
GO:0035666
GO:0038095
GO:0042802
GO:0042803
GO:0042975
GO:0043123
GO:0043167
GO:0043226
GO:0043276
GO:0044403
GO:0045087
GO:0045944
GO:0046872
GO:0046982
GO:0050852
GO:0051092
GO:0051403
GO:0051650
GO:0070423
GO:0070498
GO:0070530
GO:0072686
GO:1901215
GO:1990450
HGNC:5961
HPA000426
IKBKG
IKBKG-206
IKBKG-207
IKBKG-208
IKBKG-214
ILMN_1707308
IPR021063
IPR032419
IPR034735
LRG_70
MIM:300248
MIM:300291
MIM:300301
MIM:300584
MIM:300636
MIM:300640
MIM:308300
NM_001099856
NM_001099857
NM_001145255
NM_001321396
NM_003639
NP_001093326
NP_001093327
NP_001138727
NP_001308325
NP_003630
PF11577
PF16516
PF18414
PH_hs_0027638
TC0X001541.hg
TC0X001941.hg
UPI0000000CC4
UPI00001A36E3
UPI0000370010
Participant Of
hasMember
Other forms of this molecule
SUMO1-K277,K309-IKBKG [nucleoplasm]
IKBKG [nucleoplasm]
IKBKG D406V [cytosol]
IKBKG L153R [cytosol]
IKBKG C417R [cytosol]
IKBKG R173G [cytosol]
IKBKG R175P [cytosol]
IKBKG *420Wro*447 [cytosol]
IKBKG [cytosol]
K63polyUb-NEMO [cytosol]
Ub-285-IKBKG [cytosol]
Modified Residues
Name
Deletion of residues 391 to 419
Disease
Name Identifier Synonyms
primary immunodeficiency disease 612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
Cross References
RefSeq
OpenTargets
GeneCards
ZINC - Substances
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
PDB
Interactors (64)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O14920 IKBKB  3 0.98 36
 UniProt:O15111 CHUK  3 0.966 26
 UniProt:Q13546 RIPK1  9 0.893 9
 UniProt:Q9BYM8 RBCK1  1 0.858 9
 UniProt:P25963 NFKBIA  10 0.845 6
 UniProt:Q9Y6K9 IKBKG  12 0.84 9
 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  316 0.75 4
 UniProt:Q15025 TNIP1  1 0.709 6
 UniProt:Q9UHD2 TBK1  6 0.702 4
 IntAct:EBI-15701099 IKKALPHA/BETA      0.695 6
 UniProt:P08238 HSP90AB1  6 0.669 4
 UniProt:P01375 TNF  5 0.669 3
 UniProt:Q9UDY8 MALT1  1 0.656 4
 UniProt:P67775 PPP2CA  4 0.641 4
 UniProt:P24941 CDK2  5 0.633 4
 UniProt:Q14161 GIT2      0.618 6
 UniProt:Q8VSC3 IPA9      0.616 8
 UniProt:P33993 MCM7  1 0.609 2
 UniProt:P24772 B14      0.597 3
 UniProt:Q9UBF6 RNF7  1 0.581 3
 UniProt:Q9HC62 SENP2  1 0.581 3
 UniProt:P21579 SYT1  7 0.581 3
 UniProt:P05937 CALB1  1 0.581 3
 UniProt:P05783 KRT18  1 0.57 3
 UniProt:P63261 ACTG1  3 0.564 2
 UniProt:P07900 HSP90AA1  8 0.564 3
 UniProt:P63165 SUMO1  155 0.564 3
 UniProt:Q04712 RRN11      0.556 3
 UniProt:P04083 ANXA1  2 0.556 6
 UniProt:Q92844 TANK  2 0.547 5
 UniProt:Q9NQC7 CYLD  2 0.547 2
 UniProt:Q13158 FADD  1 0.527 2
 UniProt:Q13490 BIRC2  5 0.527 3
 UniProt:Q5D1E8 ZC12A      0.524 2
 UniProt:Q13501 SQSTM1  2 0.524 2
 UniProt:Q13315 ATM  3 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:Q2TBE0 C19L2      0.488 2
 UniProt:Q99633 PRP18      0.488 2
 UniProt:P28074 PSMB5  2 0.488 2
 UniProt:Q9NYJ8 TAB2  5 0.488 2
 UniProt:Q9H0I2 ENKD1      0.488 2
 UniProt:Q96PV6 LENG8      0.488 2
 UniProt:Q7Z4H3 HDDC2      0.488 2
 UniProt:Q96SQ5 ZNF587  1 0.488 2
 UniProt:Q9UJX0 OSGI1      0.488 2
 UniProt:Q9Y2P0 ZN835      0.488 2
 UniProt:Q9Y2X8 UBE2D4  1 0.488 2
 UniProt:Q13573 SNW1  1 0.488 2
 UniProt:O95391 SLU7  1 0.488 2
 UniProt:Q92917 GPKOW  1 0.488 2
 UniProt:P01106 MYC  2 0.463 3