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IKBKAP - inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Entrez Gene Name: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Entrez GeneID: Human(8518)
, Mouse(230233)
, Rat(140934)
Synonyms: 3110040G09Rik, 6030413P05, C78473, DKFZp781H1425, DYS, ELP1, FD, FLJ12497, IKAP, IKBKAP, IKI3, Ikkap1, TOT1
Gene Summary
- Human (8518): The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq]
- Rat (140934): mutation of gene is associated with autosomal recessive disorder familial dysautonomia (FD) [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
I-kappaB phosphorylation, immune response, protein complex assembly, protein phosphorylation, regulation of catalytic activity, regulation of phosphorylation, regulation of transcription from RNA polymerase II promoter, regulation of transcription, DNA-dependent, signal transduction, transcription, DNA-dependent
Cellular Components
cytoplasm, DNA-directed RNA polymerase II, holoenzyme, nucleolus, nucleus, transcription elongation factor complex
Literature References
- 16169070
Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE. A human protein-protein interaction network: a resource for annotating the proteome.Cell 2005 Sep 23;122(6):957-68 - 17554300
Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 2007 06 7;447(7145):661-78 - 9751059
Cohen L, Henzel WJ, Baeuerle PA. IKAP is a scaffold protein of the IkappaB kinase complex.Nature 1998 Sep 17;395(6699):292-6
Molecular Functions
ATP binding, DNA binding, phosphorylase kinase regulator activity, protein binding, protein kinase activity, signal transducer activity
- Angiopoietin Signaling
- Role of NFAT in Regulation of the Immune Response
- Induction of Apoptosis by HIV1
- Lymphotoxin β Receptor Signaling
- B Cell Activating Factor Signaling
- 4-1BB Signaling in T Lymphocytes
- NF-κB Activation by Viruses
- CD27 Signaling in Lymphocytes
- Activation of IRF by Cytosolic Pattern Recognition Receptors
- CD40 Signaling
Protein Domains
ATP binding, IKI3 family, phosphorylase kinase regulator, protein binding, signal transducer
