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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
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]

Cell Regulation

Regulates:
  • Ikb
  • NFKBIA
  • NFkB
View all 28 in IPA
Regulated by:
  • MAP3K14
  • MAP3K1
  • Akt
View all 33 in IPA
Binds:
  • ELP3
  • ELP2
  • ELP4
View all 71 in IPA
Role in cell:
  • expression in
View all 1 in IPA
Disease:
  • familial dysautonomia
  • non-insulin-dependent diabetes mellitus
  • hypertension
View all 7 in IPA

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

  • 16169070Stelzl 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
  • 17554300Wellcome 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
  • 9751059Cohen L, Henzel WJ, Baeuerle PA. IKAP is a scaffold protein of the IkappaB kinase complex.Nature 1998 Sep 17;395(6699):292-6
View 401 categorized literature findings and their references in IPA

Molecular Functions

ATP binding, DNA binding, phosphorylase kinase regulator activity, protein binding, protein kinase activity, signal transducer activity

Protein Domains

ATP binding, IKI3 family, phosphorylase kinase regulator, protein binding, signal transducer

Subcellular Locations

Cytoplasm, nucleoli, Nucleus