Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency

Gene Information

Names

HUGO name: NFKBIA

Alias(es):

  • IKBA
  • MAD-3
  • MAD3
  • NFKBI
  • Nuclear factor of kappa light chain gene enhancer in B-cells
  • Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
  • NF-kappaB inhibitor alpha
  • Major histocompatibility complex enhancer- binding protein MAD3
  • I-kappa-B-alpha
  • IkappaBalpha
  • IKB-alpha

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. May be involved in regulation of transcriptional responses to NF-kappa-B, including cell adhesion, immune and proinflammatory responses, apoptosis, differentiation and growth. Controlled by sequential serine-phosphorylation, ubiquitination and degradation. Tyrosine-phosphorylation could only lead to dissociation from NF-kappa-B.

Subunit:

Interacts with p65.

Subcellular location:

Cytoplasmic

Post-translational modification:

Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity.

Induction:

Induced in adherent monocytes.

Similarity:

Belongs to the NF-kappa-B inhibitor family.

Other features

Ubiquitin binding site: 21

    Ubiquitin binding site: 22

      Other related resourses:

      Expression

      Expression pattern for human

      Tissue Expression (%) Clones
      Fetal pancreas (4 Pooled Donors, 18 - 20 weeks, Stratagene #738023) 92.14 1:2
      larynx 0.48 2:771
      eye 0.40 1:463
      lymph node 0.22 9:7498
      two pooled squamous cell carcinomas 0.22 4:3340
      Placenta cot 25-normalized 0.21 28:24002
      lung tumor 0.21 2:1790
      glioblastoma without EGFR amplification 0.20 1:929
      placenta 0.19 6:5763
      cord blood 0.19 7:6733
      fetal pancreas (4 Pooled Donors, 18 - 20 weeks 92.14 1:2
      larynx 0.48 2:771
      eye 0.40 1:463
      lymph node 0.22 9:7498
      two pooled squamous cell carcinomas 0.22 4:3340
      placenta cot 25-normalized 0.21 28:24002
      lung tumor 0.21 2:1790
      glioblastoma without EGFR amplification 0.20 1:929
      placenta 0.19 6:5763
      cord blood 0.19 7:6733