IKBKG
Encyclopedia
NF-kappa-B essential modulator (NEMO) also known as inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK-γ) is a protein
that in humans is encoded by the IKBKG gene
. NEMO is a subunit of the IκB kinase
that activates NF-κB. The human gene for IKBKG is located on chromosome Xq28. Multiple transcript variants encoding different isoforms have been found for this gene.
(IKK) complex, which activates NF-κB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways.
, hypohidrotic ectodermal dysplasia
, and several other types of immunodeficiencies.
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.
with:
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the IKBKG gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. NEMO is a subunit of the IκB kinase
IκB kinase
The IκB kinase is an enzyme complex that is involved in propagating the cellular response to inflammation.The IκB kinase enzyme complex is part of the upstream NF-κB signal transduction cascade...
that activates NF-κB. The human gene for IKBKG is located on chromosome Xq28. Multiple transcript variants encoding different isoforms have been found for this gene.
Function
NEMO (IKK-γ) is the regulatory subunit of the inhibitor of IκB kinaseIκB kinase
The IκB kinase is an enzyme complex that is involved in propagating the cellular response to inflammation.The IκB kinase enzyme complex is part of the upstream NF-κB signal transduction cascade...
(IKK) complex, which activates NF-κB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways.
Clinical significance
Mutations in the IKBKG gene results in incontinentia pigmentiIncontinentia pigmenti
Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
, hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans...
, and several other types of immunodeficiencies.
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
Apoptosis
Apoptosis is the process of programmed cell death that may occur in multicellular organisms. Biochemical events lead to characteristic cell changes and death. These changes include blebbing, cell shrinkage, nuclear fragmentation, chromatin condensation, and chromosomal DNA fragmentation...
, a lack of IKBKG (and hence a lack of active NF-κB) makes cells more prone to apoptosis.
Interactions
IKBKG has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with:
- BCL10BCL10B-cell lymphoma/leukemia 10 is a protein that in humans is encoded by the BCL10 gene.-Interactions:BCL10 has been shown to interact with CARD10, CARD11, MALT1, TRAF2, IKBKG and CARD9.-Further reading:...
, - CDC37CDC37Hsp90 co-chaperone Cdc37 is a protein that in humans is encoded by the CDC37 gene.The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Saccharomyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction...
, - CHUKCHUKInhibitor of nuclear factor kappa-B kinase subunit alpha also known as IKK1 or conserved helix-loop-helix ubiquitous kinase is a protein kinase that in humans is encoded by the CHUK gene. IKK-α is part of the IκB kinase complex that plays an important role in regulating the NF-κB transcription...
, - IKK2IKK2IKK-β also known as inhibitor of nuclear factor kappa-B kinase subunit beta is a protein that in humans is encoded by the IKBKB gene.- Function :...
, - IRAK1IRAK1Interleukin-1 receptor-associated kinase 1 is an enzyme that in humans is encoded by the IRAK1 gene.-Interactions:IRAK1 has been shown to interact with Myd88, IKBKG, IKK2, TRAF6, CHUK and Ubiquitin C.-Further reading:...
, - NCOA3Nuclear receptor coactivator 3The nuclear receptor coactivator 3 also known as NCOA3 is a protein that, in humans, is encoded by the NCOA3 gene. NCOA3 is also frequently called 'amplified in breast 1' , steroid receptor coactivator-3 , or thyroid hormone receptor activator molecule 1 .-Function:NCOA3 is a transcriptional...
, - PPM1BPPM1BProtein phosphatase 1B is an enzyme that in humans is encoded by the PPM1B gene.-Interactions:PPM1B has been shown to interact with IKBKG, IKK2, Cyclin-dependent kinase 2, Cyclin-dependent kinase 6, CHUK and MAP3K7.-Further reading:...
, - TANKTANK (gene)TRAF family member-associated NF-kappa-B activator is a protein that in humans is encoded by the TANK gene.-Interactions:TANK has been shown to interact with TANK-binding kinase 1, IKBKE, TRAF2, IKBKG and TRAF3.-Further reading:...
. - TNFAIP3TNFAIP3Tumor necrosis factor, alpha-induced protein 3 is a protein that in humans is encoded by the TNFAIP3 gene.-Interactions:TNFAIP3 has been shown to interact with TNIP1, TRAF1, TRAF2, IKBKG, TAX1BP1, YWHAB, YWHAZ, TRAF6 and YWHAH....
, - TRAF3IP2TRAF3IP2Adapter protein CIKS is a protein that in humans is encoded by the TRAF3IP2 gene.-Further reading:...
, and - TRAF6TRAF6TRAF6 is a TRAF human protein.-Interactions:TRAF6 has been shown to interact with SDCBP, IRAK2, IRAK1, MAP3K7IP2, MAP3K7IP1, TNFRSF13B, FHL2, CD40, IKBKG, RANK, HSPB2, UBE2N, SIGIRR, TAX1BP1, ASK1, PPP4C, TNFAIP3, Sequestosome 1, MAP3K7 and Ubiquitin C....
.