X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (Nemo deficiency)

Gene Information

Names

HUGO name: IKBKG

Alias(es):

  • FIP-3
  • FIP3
  • Fip3p
  • IKK-gamma
  • IP2
  • NEMO
  • inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
  • NF-kappaB essential modulator
  • NF-kappaB essential modifier
  • Inhibitor of nuclear factor kappa-B kinase gamma subunit
  • IkB kinase gamma subunit
  • I-kappa-B kinase gamma
  • IKKG
  • IkB kinase-associated protein 1
  • IKKAP1
  • FIP-3

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Regulatory subunit part of the IKK-signalosome complex activation. Also considered to be a mediator for TAX activation of NF-kappa-B. Could be implicated in NF-kappa-B-mediated protection from cytokine toxicity

Subunit:

Interacts preferentially with IKK-beta but also able to interact with IKK-alpha, IKAP, TAX, RIP and MAP3k14/NIK. Binds to T-cell leukemia virus type I TAX oncoprotein.

Subcellular location:

Cytoplasmic and nuclear

Structures (PDB)

Domains

Coiled coil domain: 49-356

    Leucine-zipper domain: 322-343

      Other features

      Other related resourses:

      Expression

      Expression pattern for human

      Tissue Expression (%) Clones
      skin, melanocyte 22.39 1:520
      fibrosarcoma 12.47 2:1867
      T cells from T cell leukemia 9.71 2:2397
      B cells from Burkitt lymphoma 5.43 1:2143
      ovary (pool of 3) 5.32 2:4380
      leukocyte 5.18 4:8982
      esophagus 3.95 1:2949
      human optic nerve 2.64 1:4406
      leukopheresis 2.55 1:4557
      germ cell 2.32 4:20077

      Animal models

      Mouse

      Fly