IKBKG

From Wikipedia, the free encyclopedia

Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma

Identifiers

IKBKG; IP; FIP-3; FIP3; Fip3p; IKK-gamma; IP1; IP2; NEMO

External IDs

OMIM: 300248 MGI: 1338074 HomoloGene: 2698

Gene ontology
Molecular Function:	• signal transducer activity • protein binding • kinase activity
Cellular Component:	• intracellular • nucleus • IkappaB kinase complex • cytoplasmic part
Biological Process:	• B cell homeostasis • transcription • regulation of transcription, DNA-dependent • induction of apoptosis • immune response • activation of NF-kappaB-inducing kinase • T cell receptor signaling pathway

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003639 (mRNA)
NP_003630 (protein)

NM_010547 (mRNA)
NP_034677 (protein)

Location

Chr X: 153.42 - 153.45 Mb

Chr X: 70.68 - 70.7 Mb

Pubmed search

[1]

[2]

Inhibitor of Kappa Light Polypeptide Gene Enhancer in B Cells Gamma Kinase (IKBKG), also known as NF-Kappa-B Essential Modulator (NEMO), is a protein that is a subunit of the IκB kinase that activates NF-κB, known as Inhibitor of kappa B Kinase (IKK).^[1] The gene for IKBKG is located on chromosome Xq28.^[2]

Incontinentia Pigmenti (IP) is an X-linked dominant disease caused by a mutation in the IKBKG gene. Since IKBKG helps activate NF-κB, which protects cells against TNF-alpha induced apoptosis, a lack of IKBKG (and hence a lack of active NF-κB) makes cells more prone to apoptosis.

IKBKG is also known as NEMO. NEMO is like a "master switch" that is found on the cell of the human body and regulates signals between the cell membrane and the cell nucleus. NEMO is expressed in almost all tissue cells. If NEMO is not present life is not possible. NEMO stands for Nuclear Factor Kappa B Essential Modulator. Nuclear Factor Kappa B or NFKB is the name of the protein that is used for communication between the membrane and the nucleus. NEMO is known to be the pathway of skin, skeleton, blood vessel and other vital signals. For example, the EDA gene is known to dictate properties of the "ectoderm" or last layer of the skin. The EDA gene uses the NEMO pathway to the nucleus to make the "ectoderm" properties present.

[edit] References

^ Rothwarf DM, Zandi E, Natoli G, Karin M (1998). "IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex". Nature 395 (6699): 297–300. doi:10.1038/26261. PMID 9751060.
^ Jin DY, Jeang KT (1999). "Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28". J. Biomed. Sci. 6 (2): 115–20. doi:10.1159/000025378. PMID 10087442.

[edit] Further reading

Rothwarf DM, Zandi E, Natoli G, Karin M (1998). "IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex.". Nature 395 (6699): 297–300. doi:10.1038/26261. PMID 9751060.
Mercurio F, Murray BW, Shevchenko A, et al. (1999). "IkappaB kinase (IKK)-associated protein 1, a common component of the heterogeneous IKK complex.". Mol. Cell. Biol. 19 (2): 1526–38. PMID 9891086.
Li Y, Kang J, Friedman J, et al. (1999). "Identification of a cell protein (FIP-3) as a modulator of NF-kappaB activity and as a target of an adenovirus inhibitor of tumor necrosis factor alpha-induced apoptosis.". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 1042–7. PMID 9927690.
Jin DY, Jeang KT (1999). "Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28.". J. Biomed. Sci. 6 (2): 115–20. PMID 10087442.
Jin DY, Giordano V, Kibler KV, et al. (1999). "Role of adapter function in oncoprotein-mediated activation of NF-kappaB. Human T-cell leukemia virus type I Tax interacts directly with IkappaB kinase gamma.". J. Biol. Chem. 274 (25): 17402–5. PMID 10364167.
Zhang SQ, Kovalenko A, Cantarella G, Wallach D (2000). "Recruitment of the IKK signalosome to the p55 TNF receptor: RIP and A20 bind to NEMO (IKKgamma) upon receptor stimulation.". Immunity 12 (3): 301–11. PMID 10755617.
Smahi A, Courtois G, Vabres P, et al. (2000). "Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.". Nature 405 (6785): 466–72. doi:10.1038/35013114. PMID 10839543.
Inohara N, Koseki T, Lin J, et al. (2000). "An induced proximity model for NF-kappa B activation in the Nod1/RICK and RIP signaling pathways.". J. Biol. Chem. 275 (36): 27823–31. doi:10.1074/jbc.M003415200. PMID 10880512.
Ye Z, Connor JR (2000). "cDNA cloning by amplification of circularized first strand cDNAs reveals non-IRE-regulated iron-responsive mRNAs.". Biochem. Biophys. Res. Commun. 275 (1): 223–7. doi:10.1006/bbrc.2000.3282. PMID 10944468.
Li X, Commane M, Nie H, et al. (2000). "Act1, an NF-kappa B-activating protein.". Proc. Natl. Acad. Sci. U.S.A. 97 (19): 10489–93. doi:10.1073/pnas.160265197. PMID 10962024.
Leonardi A, Chariot A, Claudio E, et al. (2000). "CIKS, a connection to Ikappa B kinase and stress-activated protein kinase.". Proc. Natl. Acad. Sci. U.S.A. 97 (19): 10494–9. doi:10.1073/pnas.190245697. PMID 10962033.
May MJ, D'Acquisto F, Madge LA, et al. (2000). "Selective inhibition of NF-kappaB activation by a peptide that blocks the interaction of NEMO with the IkappaB kinase complex.". Science 289 (5484): 1550–4. PMID 10968790.
Zonana J, Elder ME, Schneider LC, et al. (2001). "A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).". Am. J. Hum. Genet. 67 (6): 1555–62. PMID 11047757.
Xiao G, Sun SC (2000). "Activation of IKKalpha and IKKbeta through their fusion with HTLV-I tax protein.". Oncogene 19 (45): 5198–203. doi:10.1038/sj.onc.1203894. PMID 11064457.
Li XH, Fang X, Gaynor RB (2001). "Role of IKKgamma/nemo in assembly of the Ikappa B kinase complex.". J. Biol. Chem. 276 (6): 4494–500. doi:10.1074/jbc.M008353200. PMID 11080499.
Poyet JL, Srinivasula SM, Alnemri ES (2001). "vCLAP, a caspase-recruitment domain-containing protein of equine Herpesvirus-2, persistently activates the Ikappa B kinases through oligomerization of IKKgamma.". J. Biol. Chem. 276 (5): 3183–7. doi:10.1074/jbc.C000792200. PMID 11113112.
Jain A, Ma CA, Liu S, et al. (2001). "Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.". Nat. Immunol. 2 (3): 223–8. doi:10.1038/85277. PMID 11224521.
Döffinger R, Smahi A, Bessia C, et al. (2001). "X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.". Nat. Genet. 27 (3): 277–85. doi:10.1038/85837. PMID 11242109.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614.
Galgóczy P, Rosenthal A, Platzer M (2001). "Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene.". Gene 271 (1): 93–8. PMID 11410370.