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Aliases for CHUK Gene

Aliases for CHUK Gene

  • Conserved Helix-Loop-Helix Ubiquitous Kinase 2 3 4 5
  • Inhibitor Of Nuclear Factor Kappa-B Kinase Subunit Alpha 2 3
  • Transcription Factor 16 3 4
  • I-Kappa-B Kinase 1 3 4
  • IKK-Alpha 3 4
  • NFKBIKA 3 4
  • TCF-16 3 4
  • TCF16 3 4
  • IKK1 3 4
  • IKKA 3 4
  • 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
  • I-Kappa-B Kinase 2
  • IkappaB Kinase 4
  • IKK-A Kinase 3
  • EC 2.7.11.10 4
  • IKBKA 3
  • IKK-A 4
  • IkBKA 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 Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb. Among its related pathways are ERK Signaling and Immune response Fc epsilon RI pathway. Gene Ontology (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

Additional gene information for CHUK Gene

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

Genomics for CHUK Gene

GeneHancer (GH) Regulatory Elements for CHUK Gene

Promoters and enhancers for CHUK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J100266 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 671.2 -37.9 -37917 1.8 PKNOX1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B E2F8 CWF19L1 CHUK BLOC1S2 PHBP9 DNMBP ENSG00000236308 EBAG9P1 RNU6-422P
GH10J100228 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 661.6 +0.1 126 1.8 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B CHUK ENSG00000227492 BLOC1S2 EBAG9P1 MRPL43 CWF19L1 SLC25A28 PHBP9 LZTS2 ENSG00000236308
GH10J099617 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 28.3 +609.7 609685 5.6 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN NR2C1 SLC25A28 ENSG00000260475 CWF19L1 PHBP9 CHUK DNMBP EBAG9P1 TPM4P1 SPCS2P2 ENSG00000231188
GH10J100178 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.7 +46.4 46448 8.7 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ERLIN1 BLOC1S2 CWF19L1 EBAG9P1 PHBP9 MRPL43 CHUK ENSG00000236308 ENSG00000272572 LOC101927300
GH10J100909 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 19.2 -682.3 -682346 4.8 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ENSG00000272572 SLF2 MRPL43 TWNK CWF19L1 CHUK POLL PHBP9 SEMA4G MIR608
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHUK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHUK gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • POU6F1 (c2)
  • LCR-F1
  • Pax-5
  • c-Myb
  • FOXO3
  • FOXO3a
  • FOXO3b
  • RORalpha1

Genomic Locations for CHUK Gene

Genomic Locations for CHUK Gene
chr10:100,186,113-100,229,619
(GRCh38/hg38)
Size:
43,507 bases
Orientation:
Minus strand
chr10:101,948,055-101,989,376
(GRCh37/hg19)
Size:
41,322 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, ELP1 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). Interacts with IFIT5; the interaction synergizes the recruitment of IKK to MAP3K7 and enhances IKK phosphorylation (PubMed:26334375). Interacts with LRRC14 (PubMed:27426725).

    Three dimensional structures from OCA and Proteopedia for CHUK Gene

neXtProt entry for CHUK Gene

Post-translational modifications for CHUK Gene

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

Other Protein References for CHUK Gene

Antibody Products

No data available for DME Specific Peptides for CHUK Gene

Domains & Families for CHUK Gene

Gene Families for CHUK Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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.
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

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).
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.
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

Enzyme Numbers (IUBMB) for CHUK Gene

Phenotypes From GWAS Catalog 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:0004674 protein serine/threonine kinase activity IEA,IBA --
GO:0005515 protein binding IPI 8246997
GO:0005524 ATP binding IEA --
GO:0008384 IkappaB kinase activity TAS 18626576
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

Clone Products

  • Addgene plasmids for CHUK

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHUK gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHUK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 9252186
GO:0005829 cytosol TAS,IEA --
GO:0008385 IkappaB kinase complex IEA,TAS 18626576
genes like me logo Genes that share ontologies with CHUK: view

Pathways & Interactions for CHUK Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 TNFR1 Pathway
3 4-1BB Pathway
4 RET signaling
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:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0003009 skeletal muscle contraction IEA --
GO:0006468 protein phosphorylation IDA 20434986
genes like me logo Genes that share ontologies with CHUK: view

Drugs & Compounds for CHUK Gene

(63) Drugs for CHUK Gene - From: DrugBank, 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 63
Aminosalicylic Acid Approved Pharma Target, inhibitor 31
Mesalazine Approved Pharma Target, inhibitor 0
Acetylcysteine Approved, Investigational Pharma Target, inhibitor Antioxidant;mucolytic agent 352
Amlexanox Approved, Investigational Pharma Inhibitor of TBK1 and IKKepsilon; antiallergic agent 3

(42) Additional Compounds for CHUK Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
IKK 16
1186195-62-9

(3) Tocris Compounds for CHUK Gene

Compound Action Cas Number
Amlexanox Inhibitor of TBK1 and IKKepsilon; antiallergic agent 68302-57-8
IKK 16 Selective inhibitor of IKK 1186195-62-9
TPCA-1 Potent, selective inhibitor of IKKbeta 507475-17-4
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:

Clone Products

  • Addgene plasmids for CHUK

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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.

Evidence on tissue expression from TISSUES for CHUK Gene

  • Blood(4.4)
  • Heart(4.4)
  • Intestine(2.1)
  • Skin(2.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHUK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • skull
  • tongue
  • tooth
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
Pelvis:
  • penis
  • testicle
  • vulva
Limb:
  • lower limb
  • upper limb
General:
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with CHUK: view

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
chimpanzee
(Pan troglodytes)
Mammalia CHUK 34 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHUK 34 33
  • 94.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHUK 34 33
  • 94.68 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chuk 33
  • 92.57 (n)
mouse
(Mus musculus)
Mammalia Chuk 16 34 33
  • 92.44 (n)
oppossum
(Monodelphis domestica)
Mammalia CHUK 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHUK 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHUK 34 33
  • 76.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHUK 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chuk 33
  • 69.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31871 33
zebrafish
(Danio rerio)
Actinopterygii chuk 34 33
  • 63.55 (n)
OneToOne
zgc56539 33
fruit fly
(Drosophila melanogaster)
Insecta ird5 34 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)
Aminode:
Evolutionary constrained regions (ECRs) for CHUK: view image

Paralogs for CHUK Gene

Paralogs for CHUK Gene

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

  • IKKA_HUMAN
  • Q562E6_HUMAN
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 Variation AA Info Type
rs267606736 pathogenic, Cocoon syndrome 100,205,167(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs483352712 uncertain-significance, not provided 100,205,161(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057524734 uncertain-significance, not specified 100,194,000(-) A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000008521 -- 100,198,246(-) A/G 3_prime_UTR_variant, intron_variant
rs1000110110 -- 100,206,050(-) C/G 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)

Additional Variant Information for CHUK Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CHUK Gene

MalaCards: The human disease database

(10) MalaCards diseases for CHUK Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cocoon syndrome
  • fetal encasement syndrome
chromosome 1q21.1 deletion syndrome, 1.35-mb
  • chromosome 1q21.1 deletion syndrome
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
  • ectd10b
helicobacter pylori infection
  • helicobacter pylori infection, susceptibility to
incontinentia pigmenti
  • incontinentia pigmenti achromians
- 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.

Additional Disease Information for CHUK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 LA … May MJ (Immunologic research 2008) 3 4 22 58
  2. Phosphorylation of CBP by IKKalpha promotes cell growth by switching the binding preference of CBP from p53 to NF-kappaB. (PMID: 17434128) Huang WC … Chen CC (Molecular cell 2007) 3 4 22 58
  3. IKKalpha controls p52/RelB at the skp2 gene promoter to regulate G1- to S-phase progression. (PMID: 16902410) Schneider G … Schmid RM (The EMBO journal 2006) 2 3 22 58
  4. NF-kappaB-inducing kinase activates IKK-alpha by phosphorylation of Ser-176. (PMID: 9520446) Ling L … Goeddel DV (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22 58
  5. Coordinate regulation of IkappaB kinases by mitogen-activated protein kinase kinase kinase 1 and NF-kappaB-inducing kinase. (PMID: 9819420) Nemoto S … Lin A (Molecular and cellular biology 1998) 3 4 22 58

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