Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHUK Gene

Aliases for CHUK Gene

  • Conserved Helix-Loop-Helix Ubiquitous Kinase 2 3 4 5
  • Transcription Factor 16 3 4
  • I-Kappa-B Kinase 1 3 4
  • EC 2.7.11.10 4 61
  • IKK-Alpha 3 4
  • NFKBIKA 3 4
  • TCF-16 3 4
  • IKBKA 3 4
  • TCF16 3 4
  • IKK1 3 4
  • IKKA 3 4
  • Inhibitor Of Nuclear Factor Kappa-B Kinase Subunit Alpha 3
  • Nuclear Factor NF-Kappa-B Inhibitor Kinase Alpha 4
  • Nuclear Factor NFkappaB Inhibitor Kinase Alpha 3
  • IkB Kinase Alpha Subunit 3
  • I-Kappa-B Kinase-Alpha 3
  • I-Kappa-B Kinase Alpha 4
  • IkappaB Kinase 4
  • IKK-A Kinase 3
  • EC 2.7.11 61
  • IKK-A 4

External Ids for CHUK Gene

Previous HGNC Symbols for CHUK Gene

  • TCF16

Previous GeneCards Identifiers for CHUK Gene

  • GC10M100841
  • GC10M101181
  • GC10M102079
  • GC10M101612
  • GC10M101938
  • GC10M095577

Summaries for CHUK Gene

Entrez Gene Summary for CHUK Gene

  • This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]

GeneCards Summary for CHUK Gene

CHUK (Conserved Helix-Loop-Helix Ubiquitous Kinase) is a Protein Coding gene. Diseases associated with CHUK include Cocoon Syndrome and Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive. Among its related pathways are Cytosolic sensors of pathogen-associated DNA and PI-3K cascade-FGFR3. GO annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is IKBKB.

UniProtKB/Swiss-Prot for CHUK Gene

  • Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Negatively regulates the pathway by phosphorylating the scaffold protein TAXBP1 and thus promoting the assembly of the A20/TNFAIP3 ubiquitin-editing complex (composed of A20/TNFAIP3, TAX1BP1, and the E3 ligases ITCH and RNF11). Therefore, CHUK plays a key role in the negative feedback of NF-kappa-B canonical signaling to limit inflammatory gene activation. As part of the non-canonical pathway of NF-kappa-B activation, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. In turn, these complexes regulate genes encoding molecules involved in B-cell survival and lymphoid organogenesis. Participates also in the negative feedback of the non-canonical NF-kappa-B signaling pathway by phosphorylating and destabilizing MAP3K14/NIK. Within the nucleus, phosphorylates CREBBP and consequently increases both its transcriptional and histone acetyltransferase activities. Modulates chromatin accessibility at NF-kappa-B-responsive promoters by phosphorylating histones H3 at Ser-10 that are subsequently acetylated at Lys-14 by CREBBP. Additionally, phosphorylates the CREBBP-interacting protein NCOA3. Also phosphorylates FOXO3 and may regulate this pro-apoptotic transcription factor (PubMed:15084260).

Tocris Summary for CHUK Gene

  • IkappaB Kinase (IKK) is an enzyme complex that forms part of the NF-kappaB signaling pathway. The IKK complex is comprised of three subunits (IKKalpha (IKK1), IKKbeta (IKK2) and IKKgamma (NEMO)), the alpha- and beta-subunits are catalytically active whereas the gamma-subunit has a regulatory function.

Gene Wiki entry for CHUK Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHUK Gene

Genomics for CHUK Gene

Regulatory Elements for CHUK Gene

Enhancers for CHUK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CHUK on UCSC Golden Path with GeneCards custom track

Promoters for CHUK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHUK on UCSC Golden Path with GeneCards custom track

Genomic Location for CHUK Gene

Chromosome:
10
Start:
100,186,113 bp from pter
End:
100,229,619 bp from pter
Size:
43,507 bases
Orientation:
Minus strand

Genomic View for CHUK Gene

Genes around CHUK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHUK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHUK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHUK Gene

Proteins for CHUK Gene

  • Protein details for CHUK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15111-IKKA_HUMAN
    Recommended name:
    Inhibitor of nuclear factor kappa-B kinase subunit alpha
    Protein Accession:
    O15111
    Secondary Accessions:
    • O14666
    • Q13132
    • Q5W0I4
    • Q92467

    Protein attributes for CHUK Gene

    Size:
    745 amino acids
    Molecular mass:
    84640 Da
    Quaternary structure:
    • Component of the I-kappa-B-kinase (IKK) core complex consisting of CHUK, IKBKB and IKBKG; probably four alpha/CHUK-beta/IKBKB dimers are associated with four gamma/IKBKG subunits. The IKK core complex seems to associate with regulatory or adapter proteins to form a IKK-signalosome holo-complex (PubMed:10195894, PubMed:12612076). The IKK complex associates with TERF2IP/RAP1, leading to promote IKK-mediated phosphorylation of RELA/p65 (By similarity). Part of a complex composed of NCOA2, NCOA3, CHUK/IKKA, IKBKB, IKBKG and CREBBP (PubMed:11971985). Part of a 70-90 kDa complex at least consisting of CHUK/IKKA, IKBKB, NFKBIA, RELA, IKBKAP and MAP3K14 (PubMed:9751059). Directly interacts with TRPC4AP (By similarity). May interact with TRAF2 (PubMed:19150425). Interacts with NALP2 (PubMed:15456791). May interact with MAVS/IPS1 (PubMed:16177806). Interacts with ARRB1 and ARRB2 (PubMed:15173580). Interacts with NLRC5; prevents CHUK phosphorylation and kinase activity (PubMed:20434986). Interacts with PIAS1; this interaction induces PIAS1 phosphorylation (PubMed:17540171). Interacts with ZNF268 isoform 2; the interaction is further increased in a TNF-alpha-dependent manner (PubMed:23091055). Interacts with FOXO3 (PubMed:15084260).

    Three dimensional structures from OCA and Proteopedia for CHUK Gene

neXtProt entry for CHUK Gene

Post-translational modifications for CHUK Gene

  • (Microbial infection) Acetylation of Thr-179 by Yersinia yopJ prevents phosphorylation and activation, thus blocking the I-kappa-B signaling pathway.
  • Phosphorylated by MAP3K14/NIK, AKT and to a lesser extent by MEKK1, and dephosphorylated by PP2A. Autophosphorylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHUK Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CHUK (IKKA)

Domains & Families for CHUK Gene

Gene Families for CHUK Gene

Suggested Antigen Peptide Sequences for CHUK Gene

Graphical View of Domain Structure for InterPro Entry

O15111

UniProtKB/Swiss-Prot:

IKKA_HUMAN :
  • The kinase domain is located in the N-terminal region. The leucine zipper is important to allow homo- and hetero-dimerization. At the C-terminal region is located the region responsible for the interaction with NEMO/IKBKG.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily.
Domain:
  • The kinase domain is located in the N-terminal region. The leucine zipper is important to allow homo- and hetero-dimerization. At the C-terminal region is located the region responsible for the interaction with NEMO/IKBKG.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily.
genes like me logo Genes that share domains with CHUK: view

Function for CHUK Gene

Molecular function for CHUK Gene

GENATLAS Biochemistry:
I kappa B alpha-kinase inhibitor of kappa light polypeptide enhancer in B cells (NFKB),kinase alpha,activated by MEKK1,complexing with IKBKB
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [I-kappa-B protein] = ADP + [I-kappa-B phosphoprotein].
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated when phosphorylated and inactivated when dephosphorylated.
UniProtKB/Swiss-Prot Function:
Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Negatively regulates the pathway by phosphorylating the scaffold protein TAXBP1 and thus promoting the assembly of the A20/TNFAIP3 ubiquitin-editing complex (composed of A20/TNFAIP3, TAX1BP1, and the E3 ligases ITCH and RNF11). Therefore, CHUK plays a key role in the negative feedback of NF-kappa-B canonical signaling to limit inflammatory gene activation. As part of the non-canonical pathway of NF-kappa-B activation, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. In turn, these complexes regulate genes encoding molecules involved in B-cell survival and lymphoid organogenesis. Participates also in the negative feedback of the non-canonical NF-kappa-B signaling pathway by phosphorylating and destabilizing MAP3K14/NIK. Within the nucleus, phosphorylates CREBBP and consequently increases both its transcriptional and histone acetyltransferase activities. Modulates chromatin accessibility at NF-kappa-B-responsive promoters by phosphorylating histones H3 at Ser-10 that are subsequently acetylated at Lys-14 by CREBBP. Additionally, phosphorylates the CREBBP-interacting protein NCOA3. Also phosphorylates FOXO3 and may regulate this pro-apoptotic transcription factor (PubMed:15084260).

Enzyme Numbers (IUBMB) for CHUK Gene

Gene Ontology (GO) - Molecular Function for CHUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 20434986
GO:0005515 protein binding IPI 8246997
GO:0005524 ATP binding IEA --
GO:0008384 IkappaB kinase activity IEA,TAS 18626576
GO:0042803 protein homodimerization activity IDA 23091055
genes like me logo Genes that share ontologies with CHUK: view

Phenotypes for CHUK Gene

MGI mutant phenotypes for CHUK:
inferred from 9 alleles
GenomeRNAi human phenotypes for CHUK:
genes like me logo Genes that share phenotypes with CHUK: view

Human Phenotype Ontology for CHUK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHUK Gene

MGI Knock Outs for CHUK:

Animal Model Products

  • Taconic Biosciences Mouse Models for CHUK

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CHUK

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CHUK Gene

Localization for CHUK Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHUK Gene

Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHUK Gene COMPARTMENTS Subcellular localization image for CHUK gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 4
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CHUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA,TAS --
GO:0008385 IkappaB kinase complex IEA,TAS 18626576
GO:0009898 cytoplasmic side of plasma membrane ISS --
genes like me logo Genes that share ontologies with CHUK: view

Pathways & Interactions for CHUK Gene

SuperPathways for CHUK Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 MyD88 cascade initiated on plasma membrane
3 TWEAK Pathway
4 PI-3K cascade-FGFR3
5 Cytosolic sensors of pathogen-associated DNA
genes like me logo Genes that share pathways with CHUK: view

SIGNOR curated interactions for CHUK Gene

Gene Ontology (GO) - Biological Process for CHUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0003009 skeletal muscle contraction IEA --
GO:0006468 protein phosphorylation IDA 20434986
GO:0006954 inflammatory response TAS 18626576
GO:0006955 immune response TAS 9346484
genes like me logo Genes that share ontologies with CHUK: view

Drugs & Compounds for CHUK Gene

(68) Drugs for CHUK Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sulfasalazine Approved Pharma Inhibition, Inhibitor, Target, inhibitor NF-κB activation inhibitor 60
Aminosalicylic Acid Approved Pharma Target, inhibitor 27
Mesalazine Approved Pharma Target, inhibitor 0
Acetylcysteine Approved Pharma Target, inhibitor Antioxidant;mucolytic agent 304
Adenosine triphosphate Approved Nutra 0

(41) Additional Compounds for CHUK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(5) Tocris Compounds for CHUK Gene

Compound Action Cas Number
ACHP Selective IKKalpha and IKKbeta inhibitor 406208-42-2
Amlexanox Inhibitor of TBK1 and IKKeta; antiallergic agent 68302-57-8
BMS 345541 Selective allosteric inhibitor of IKK; anti-inflammatory 547757-23-3
PF 184 Potent and selective IKKbeta inhibitor 1187460-81-6
PS 1145 dihydrochloride Selective IKK inhibitor; orally active 1049743-58-9

(12) ApexBio Compounds for CHUK Gene

Compound Action Cas Number
Andrographolide NF-κB signaling Inhibitor 5508-58-7
Bardoxolone methyl IKK inhibitor, potent antioxidant inflammation modulator 218600-53-4
Bay 11-7085 NK-κB activation inhibitor 196309-76-9
Bay 11-7821(BAY 11-7082) IKK/NF-κB/TNFα inhibitor 19542-67-7
BMS-345541(free base) IKK-1/IKK-2 inhibitor,potent and selective 445430-58-0
Honokiol Antioxidant/antitumor/antiangiogenic agent 35354-74-6
IKK-16 (IKK Inhibitor VII) Selective IκB kinase inhibitor 873225-46-8
IMD 0354 978-62-1
Luteolin Antioxidant and free radical scavenger 491-70-3
Tanshinone IIA Antioxidant and anti-inflammatory reagent 568-72-9
TPCA-1 IKK-2 inhibitor,potent and selective 507475-17-4
WS6 1421227-53-3
genes like me logo Genes that share compounds with CHUK: view

Transcripts for CHUK Gene

Unigene Clusters for CHUK Gene

Conserved helix-loop-helix ubiquitous kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CHUK

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHUK Gene

No ASD Table

Relevant External Links for CHUK Gene

GeneLoc Exon Structure for
CHUK
ECgene alternative splicing isoforms for
CHUK

Expression for CHUK Gene

mRNA expression in normal human tissues for CHUK Gene

Protein differential expression in normal tissues from HIPED for CHUK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.2) and Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHUK Gene



Protein tissue co-expression partners for CHUK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CHUK Gene:

CHUK

SOURCE GeneReport for Unigene cluster for CHUK Gene:

Hs.198998

mRNA Expression by UniProt/SwissProt for CHUK Gene:

O15111-IKKA_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with CHUK: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CHUK Gene

Orthologs for CHUK Gene

This gene was present in the common ancestor of animals.

Orthologs for CHUK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHUK 34
  • 94.68 (n)
  • 97.7 (a)
CHUK 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHUK 34
  • 94.68 (n)
  • 97.58 (a)
CHUK 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chuk 34
  • 92.44 (n)
  • 95.3 (a)
Chuk 16
Chuk 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHUK 34
  • 99.64 (n)
  • 99.6 (a)
CHUK 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chuk 34
  • 92.57 (n)
  • 95.17 (a)
oppossum
(Monodelphis domestica)
Mammalia CHUK 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHUK 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHUK 34
  • 76.33 (n)
  • 81.17 (a)
CHUK 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHUK 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chuk 34
  • 69.46 (n)
  • 73.65 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31871 34
zebrafish
(Danio rerio)
Actinopterygii chuk 34
  • 63.55 (n)
  • 64.14 (a)
zgc56539 34
chuk 35
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ird5 36
  • 32 (a)
ird5 35
  • 21 (a)
OneToMany
Species where no ortholog for CHUK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CHUK Gene

ENSEMBL:
Gene Tree for CHUK (if available)
TreeFam:
Gene Tree for CHUK (if available)

Paralogs for CHUK Gene

Paralogs for CHUK Gene

(7) SIMAP similar genes for CHUK Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CHUK: view

Variants for CHUK Gene

Sequence variations from dbSNP and Humsavar for CHUK Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs2230804 - 100,218,126(-) GTTTA(A/G)TAGTA nc-transcript-variant, reference, missense
rs34427437 - 100,222,121(+) ATCAC(A/T)TAGTA nc-transcript-variant, reference, missense
rs2230803 - 100,220,598(-) GGATG(C/T)TGGTG nc-transcript-variant, reference, missense
rs185855 -- 100,224,551(+) cctcc(C/T)tcggc intron-variant
rs3763710 -- 100,218,929(+) AAACA(A/C)TTAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHUK Gene

Variant ID Type Subtype PubMed ID
nsv516860 CNV loss 19592680
nsv552046 CNV loss 21841781
nsv552047 CNV loss 21841781
nsv552048 CNV loss 21841781

Variation tolerance for CHUK Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.53; 44.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHUK Gene

Human Gene Mutation Database (HGMD)
CHUK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHUK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHUK Gene

Disorders for CHUK Gene

MalaCards: The human disease database

(8) MalaCards diseases for CHUK Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cocoon syndrome
  • fetal encasement syndrome
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • hypohidrotic ectodermal dysplasia
incontinentia pigmenti
  • bloch-sulzberger syndrome
popliteal pterygium syndrome 1
  • popliteal pterygium syndrome
hepatitis c
  • chronic hepatitis c
- elite association - COSMIC cancer census association via MalaCards
Search CHUK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IKKA_HUMAN
  • Cocoon syndrome (COCOS) [MIM:613630]: A lethal syndrome characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. {ECO:0000269 PubMed:20961246}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHUK

Genetic Association Database (GAD)
CHUK
Human Genome Epidemiology (HuGE) Navigator
CHUK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHUK
genes like me logo Genes that share disorders with CHUK: view

No data available for Genatlas for CHUK Gene

Publications for CHUK Gene

  1. The IkappaB kinase complex: master regulator of NF-kappaB signaling. (PMID: 18626576) Solt L.A. … May M.J. (Immunol. Res. 2008) 3 4 22 65
  2. Phosphorylation of CBP by IKKalpha promotes cell growth by switching the binding preference of CBP from p53 to NF-kappaB. (PMID: 17434128) Huang W.C. … Chen C.C. (Mol. Cell 2007) 3 4 22 65
  3. IKKalpha controls p52/RelB at the skp2 gene promoter to regulate G1- to S-phase progression. (PMID: 16902410) Schneider G. … Schmid R.M. (EMBO J. 2006) 2 3 22 65
  4. NF-kappaB-inducing kinase activates IKK-alpha by phosphorylation of Ser-176. (PMID: 9520446) Ling L. … Goeddel D.V. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 22 65
  5. IkappaB kinase-alpha and -beta genes are coexpressed in adult and embryonic tissues but localized to different human chromosomes. (PMID: 9813230) Hu M.C.-T. … Wang Y.-P. (Gene 1998) 3 4 22 65

Products for CHUK Gene

Sources for CHUK Gene

Content