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IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma)

Gene

8517

Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

IKBKG

AMCBX1, EDAID1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, ZC2HC9

Xq28

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]

Show/Hide all(40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853321	A>G	Pathogenic	Terminator codon variant, non coding transcript variant, stop lost
rs137853322	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853323	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137853324	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137853325	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853326	G>A,T	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853327	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853328	T>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137853329	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137853330	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs137853331	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137853332	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs179363866	C>G,T	Pathogenic, not-provided	Intron variant, missense variant, coding sequence variant
rs179363867	G>A	Likely-pathogenic, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs179363896	G>A	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs386134238	GAG>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs386134240	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs782178147	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs782604431	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057517746	A>G,T	Pathogenic	Splice acceptor variant, intron variant
rs1057517874	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057520292	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057521138	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1064793564	T>C	Pathogenic	Stop lost, non coding transcript variant, terminator codon variant
rs1064794135	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1064794340	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1085307883	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1085307986	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1085308018	A>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1156900338	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs1237384577	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs1557236015	G>A	Pathogenic	Splice acceptor variant
rs1557236445	->CAGG	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1557236517	->CAGGCCGCCTC	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557236565	C>G	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1557236571	T>G	Pathogenic	Intron variant, splice donor variant
rs1557236929	G>C	Likely-pathogenic	Terminator codon variant, stop lost, non coding transcript variant
rs1569556522	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569556603	G>A	Pathogenic	Intron variant
rs1569556615	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

Show/Hide all(76)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051313	hsa-miR-15a-5p	CLASH	23622248
MIRT498936	hsa-miR-8085	PAR-CLIP	24398324
MIRT498937	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT498938	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT498939	hsa-miR-4306	PAR-CLIP	24398324
MIRT498940	hsa-miR-4644	PAR-CLIP	24398324
MIRT498941	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT498942	hsa-miR-6133	PAR-CLIP	24398324
MIRT498943	hsa-miR-6130	PAR-CLIP	24398324
MIRT498944	hsa-miR-6129	PAR-CLIP	24398324
MIRT498945	hsa-miR-6127	PAR-CLIP	24398324
MIRT498946	hsa-miR-4510	PAR-CLIP	24398324
MIRT498947	hsa-miR-4784	PAR-CLIP	24398324
MIRT498948	hsa-miR-4419a	PAR-CLIP	24398324
MIRT498949	hsa-miR-3150b-3p	PAR-CLIP	24398324
MIRT498950	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT498950	hsa-miR-6760-5p	HITS-CLIP	23313552
MIRT498951	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT498952	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT498953	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT527593	hsa-miR-513b-5p	PAR-CLIP	22012620
MIRT527594	hsa-miR-8056	PAR-CLIP	22012620
MIRT527595	hsa-miR-4320	PAR-CLIP	22012620
MIRT527596	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT613711	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT613712	hsa-miR-3941	HITS-CLIP	23824327
MIRT613712	hsa-miR-3941	HITS-CLIP	27418678
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	23313552
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT613713	hsa-miR-5580-3p	HITS-CLIP	27418678
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT613714	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT613715	hsa-miR-603	HITS-CLIP	23824327
MIRT613715	hsa-miR-603	HITS-CLIP	27418678
MIRT613716	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT613716	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT613717	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT613717	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT613718	hsa-miR-8485	HITS-CLIP	23824327
MIRT613718	hsa-miR-8485	HITS-CLIP	23313552
MIRT613718	hsa-miR-8485	HITS-CLIP	21572407
MIRT613718	hsa-miR-8485	HITS-CLIP	27418678
MIRT613719	hsa-miR-4801	HITS-CLIP	23824327
MIRT613719	hsa-miR-4801	HITS-CLIP	23313552
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT613720	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT636485	hsa-miR-1284	HITS-CLIP	23824327
MIRT691739	hsa-miR-665	HITS-CLIP	23313552
MIRT691740	hsa-miR-2054	HITS-CLIP	23313552
MIRT691741	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT691742	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT691743	hsa-miR-1827	HITS-CLIP	23313552
MIRT691744	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT691745	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT691746	hsa-miR-488-5p	HITS-CLIP	23313552
MIRT691747	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT691748	hsa-miR-4478	HITS-CLIP	23313552
MIRT691749	hsa-miR-4419b	HITS-CLIP	23313552
MIRT691750	hsa-miR-3929	HITS-CLIP	23313552
MIRT691751	hsa-miR-5582-5p	HITS-CLIP	23313552
MIRT691752	hsa-miR-887-3p	HITS-CLIP	23313552
MIRT691753	hsa-miR-3162-5p	HITS-CLIP	23313552
MIRT691754	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT691755	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT691756	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT691757	hsa-miR-4756-5p	HITS-CLIP	23313552
MIRT691758	hsa-miR-4739	HITS-CLIP	23313552
MIRT691759	hsa-miR-1321	HITS-CLIP	23313552
MIRT732518	hsa-miR-342-3p	qRT-PCR, Western blot	25580008
MIRT732535	hsa-miR-708-5p	Luciferase reporter assay	25623956

Show/Hide all(61)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IPI	17314283
GO:0000187	Process	Activation of MAPK activity	TAS
GO:0000922	Component	Spindle pole	IDA	24561039
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0002756	Process	MyD88-independent toll-like receptor signaling pathway	TAS
GO:0005515	Function	Protein binding	IPI	9751060, 11113112, 11418127, 11551959, 12486103, 14653779, 14743216, 15474016, 15601829, 15749833, 16126728, 16129692, 16319058, 16874300, 16938294, 17363905, 17363973, 17568778, 17948050, 18266467, 18287044, 18462684, 18583959, 19365808, 19373254, 19666608, 19706536, 19875381, 2001
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	14651848
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	11113112, 14651848
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	TAS	9927690
GO:0006954	Process	Inflammatory response	TAS	18626576
GO:0006955	Process	Immune response	TAS	9751060
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	14651848
GO:0006974	Process	Cellular response to DNA damage stimulus	IMP	25861989
GO:0007249	Process	I-kappaB kinase/NF-kappaB signaling	TAS	18626576
GO:0007254	Process	JNK cascade	TAS
GO:0008385	Component	IkappaB kinase complex	IBA	21873635
GO:0008385	Component	IkappaB kinase complex	IDA	23776175
GO:0008385	Component	IkappaB kinase complex	TAS	18626576
GO:0009615	Process	Response to virus	TAS	18626576
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016032	Process	Viral process	IEA
GO:0016239	Process	Positive regulation of macroautophagy	ISS
GO:0016579	Process	Protein deubiquitination	TAS
GO:0019904	Function	Protein domain specific binding	IPI	15341735
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23453807
GO:0032991	Component	Protein-containing complex	IDA	11113112
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	TAS
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042802	Function	Identical protein binding	IPI	18462684, 21988832, 30561431
GO:0042803	Function	Protein homodimerization activity	IDA	23091055
GO:0042975	Function	Peroxisome proliferator activated receptor binding	IEA
GO:0043122	Process	Regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	17702576
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	TAS
GO:0043276	Process	Anoikis	ISS
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045087	Process	Innate immune response	TAS	18626576
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23091055
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	23091055
GO:0050852	Process	T cell receptor signaling pathway	NAS	15125833
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IDA	15620648
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	TAS	18626576
GO:0051403	Process	Stress-activated MAPK cascade	TAS
GO:0051650	Process	Establishment of vesicle localization	IMP	24561039
GO:0065003	Process	Protein-containing complex assembly	IDA	11113112
GO:0070423	Process	Nucleotide-binding oligomerization domain containing signaling pathway	TAS
GO:0070498	Process	Interleukin-1-mediated signaling pathway	TAS
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IBA	21873635
GO:0072686	Component	Mitotic spindle	IDA	24561039
GO:1901215	Process	Negative regulation of neuron death	TAS	18221368
GO:1990450	Function	Linear polyubiquitin binding	IDA	23453807
GO:1990459	Function	Transferrin receptor binding	IPI	23016877

MIM	HGNC	e!Ensembl
300248	5961	ENSG00000269335

Protein

UniProt ID

Q9Y6K9

Protein name

NF-kappa-B essential modulator (NEMO) (FIP-3) (IkB kinase-associated protein 1) (IKKAP1) (Inhibitor of nuclear factor kappa-B kinase subunit gamma) (I-kappa-B kinase subunit gamma) (IKK-gamma) (IKKG) (IkB kinase subunit gamma) (NF-kappa-B essential modifier)

Protein function

Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor (PubMed:9751060, PubMed:14695475, PubMed:20724660). Its binding to scaffolding polyubiquitin plays a key role in IKK activation by multiple signaling receptor pathways (PubMed:16547522, PubMed:18287044, PubMed:19033441, PubMed:21606507, PubMed:27777308, PubMed:19185524). Can recognize and bind both 'Lys-63'-linked and linear polyubiquitin upon cell stimulation, with a much highr affinity for linear polyubiquitin (PubMed:16547522, PubMed:18287044, PubMed:27777308, PubMed:19033441, PubMed:21606507, PubMed:19185524). Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity. Essential for viral activation of IRF3 (PubMed:19854139). Involved in TLR3- and IFIH1-mediated antiviral innate response; this function requires 'Lys-27'-linked polyubiquitination (PubMed:20724660). ; (Microbial infection) Also considered to be a mediator for HTLV-1 Tax oncoprotein activation of NF-kappa-B.

PDB

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11577	NEMO	44 → 111	NF-kappa-B essential modulator NEMO	Family
PF16516	CC2-LZ	247 → 344	Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator	Coiled-coil
PF18414	zf_C2H2_10	393 → 418		Domain

Sequence

MNRHLWKSQLCEMVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQE
LRDAIRQSNQILRERCEELLHFQASQREEKEFLMCKFQEARKLVERLGLEKLDLKRQKEQ
ALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRLEAATKECQALEGRARAASEQ
ARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQE
YDNHIKSSVVGSERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPV
LKAQADIYKADFQAERQAREKLAEKKELLQEQLEQLQREYSKLKASCQESARIEDMRKRH
VEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQIHVMECIE

Sequence length

419

Interactions

View interactions

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