Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NFKBIA Gene

Aliases for NFKBIA Gene

  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor, Alpha 2 3
  • IKBA 3 4 6
  • Major Histocompatibility Complex Enhancer-Binding Protein MAD3 3 4
  • I-Kappa-B-Alpha 3 4
  • IkappaBalpha 3 4
  • IkB-Alpha 3 4
  • NFKBI 3 4
  • Nuclear Factor Of Kappa Light Chain Gene Enhancer In B-Cells 3
  • NF-Kappa-B Inhibitor Alpha 3
  • MAD-3 3
  • MAD3 4

External Ids for NFKBIA Gene

Previous HGNC Symbols for NFKBIA Gene

  • NFKBI

Previous GeneCards Identifiers for NFKBIA Gene

  • GC14M033248
  • GC14M029658
  • GC14M033860
  • GC14M034940
  • GC14M035870
  • GC14M015984

Summaries for NFKBIA Gene

Entrez Gene Summary for NFKBIA Gene

  • This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]

GeneCards Summary for NFKBIA Gene

NFKBIA (Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor, Alpha) is a Protein Coding gene. Diseases associated with NFKBIA include ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency and hypohidrotic ectodermal dysplasia with immunodeficiency. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include identical protein binding and enzyme binding. An important paralog of this gene is BCL3.

UniProtKB/Swiss-Prot for NFKBIA Gene

  • Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.

Gene Wiki entry for NFKBIA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFKBIA Gene

Genomics for NFKBIA Gene

Regulatory Elements for NFKBIA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NFKBIA Gene

Start:
35,401,510 bp from pter
End:
35,404,754 bp from pter
Size:
3,245 bases
Orientation:
Minus strand

Genomic View for NFKBIA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NFKBIA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFKBIA Gene

Proteins for NFKBIA Gene

  • Protein details for NFKBIA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25963-IKBA_HUMAN
    Recommended name:
    NF-kappa-B inhibitor alpha
    Protein Accession:
    P25963
    Secondary Accessions:
    • B2R8L6

    Protein attributes for NFKBIA Gene

    Size:
    317 amino acids
    Molecular mass:
    35609 Da
    Quaternary structure:
    • Interacts with RELA; the interaction requires the nuclear import signal. Interacts with NKIRAS1 and NKIRAS2. Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, IKBKAP and MAP3K14. Interacts with HBV protein X. Interacts with isoform 1 and isoform 2 of RWDD3; the interaction enhances sumoylation. Interacts (when phosphorylated at the 2 serine residues in the destruction motif D-S-G-X(2,3,4)-S) with BTRC. Associates with the SCF(BTRC) complex, composed of SKP1, CUL1 and BTRC; the association is mediated via interaction with BTRC. Part of a SCF(BTRC)-like complex lacking CUL1, which is associated with RELA; RELA interacts directly with NFKBIA. Interacts with PRMT2. Interacts with PRKACA in platelets; this interaction is disrupted by thrombin and collagen. Interacts with HIF1AN. Interacts with MEFV.

    Three dimensional structures from OCA and Proteopedia for NFKBIA Gene

neXtProt entry for NFKBIA Gene

Proteomics data for NFKBIA Gene at MOPED

Post-translational modifications for NFKBIA Gene

  • Deubiquitinated by porcine reproductive and respiratory syndrome virus Nsp2 protein, which thereby interferes with NFKBIA degradation and impairs subsequent NF-kappa-B activation
  • Monoubiquitinated at Lys-21 and/or Lys-22 by UBE2D3. Ubiquitin chain elongation is then performed by CDC34 in cooperation with the SCF(FBXW11) E3 ligase complex, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. The resulting polyubiquitination leads to protein degradation. Also ubiquitinated by SCF(BTRC) following stimulus-dependent phosphorylation at Ser-32 and Ser-36.
  • Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity. Phosphorylation at positions 32 and 36 is prerequisite to recognition by UBE2D3 leading to polyubiquitination and subsequent degradation.
  • Sumoylated; sumoylation requires the presence of the nuclear import signal. Sumoylation blocks ubiquitination and proteasome-mediated degradation of the protein thereby increasing the protein stability.
  • Ubiquitination at Lys22
  • Modification sites at PhosphoSitePlus

Other Protein References for NFKBIA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NFKBIA (IkB-alpha)

No data available for DME Specific Peptides for NFKBIA Gene

Domains for NFKBIA Gene

Gene Families for NFKBIA Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for NFKBIA Gene

Suggested Antigen Peptide Sequences for NFKBIA Gene

Graphical View of Domain Structure for InterPro Entry

P25963

UniProtKB/Swiss-Prot:

IKBA_HUMAN :
  • P25963
Family:
  • Belongs to the NF-kappa-B inhibitor family.
Similarity:
  • Contains 5 ANK repeats.
genes like me logo Genes that share domains with NFKBIA: view

Function for NFKBIA Gene

Molecular function for NFKBIA Gene

GENATLAS Biochemistry: nuclear transcription factor of kappa light chain gene enhancer in B cells (NF-kappa B) inhibitor alpha,secontinuously shutting between nucleus and cytoplasm,sequestering NKKB in the cytoplasm,inhibiting NFKB activation after modification by UBL1,inactivated in Hodgkin and Reed-Sternberg cells,ubiquinylated by a new factor termed NFKBIAE3-F1 for signal dependent activation of NF kappa B
UniProtKB/Swiss-Prot Function: Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.
UniProtKB/Swiss-Prot Induction: Induced in adherent monocytes

Gene Ontology (GO) - Molecular Function for NFKBIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10498867
GO:0008134 transcription factor binding TAS 10928981
GO:0008139 nuclear localization sequence binding IPI 1493333
GO:0019899 enzyme binding IPI 16648481
GO:0031072 heat shock protein binding IEA --
genes like me logo Genes that share ontologies with NFKBIA: view
genes like me logo Genes that share phenotypes with NFKBIA: view

Animal Models for NFKBIA Gene

MGI Knock Outs for NFKBIA:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NFKBIA Gene

Localization for NFKBIA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFKBIA Gene

Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NFKBIA Gene COMPARTMENTS Subcellular localization image for NFKBIA gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 4
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NFKBIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16648481
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0033256 I-kappaB/NF-kappaB complex TAS 16938301
genes like me logo Genes that share ontologies with NFKBIA: view

Pathways for NFKBIA Gene

SuperPathways for NFKBIA Gene

genes like me logo Genes that share pathways with NFKBIA: view

PCR Array Products

Gene Ontology (GO) - Biological Process for NFKBIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000060 protein import into nucleus, translocation IEA --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with NFKBIA: view

Compounds for NFKBIA Gene

(137) Novoseek inferred chemical compound relationships for NFKBIA Gene

Compound -log(P) Hits PubMed IDs
pdtc 82.1 15
tpck 75.4 7
mg 132 65 9
ly294002 62.6 10
sb 203580 60.5 9
genes like me logo Genes that share compounds with NFKBIA: view

Transcripts for NFKBIA Gene

mRNA/cDNA for NFKBIA Gene

Unigene Clusters for NFKBIA Gene

Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NFKBIA

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFKBIA Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: - - - - - -
SP6: - -
SP7: -
SP8: -
SP9:

Relevant External Links for NFKBIA Gene

GeneLoc Exon Structure for
NFKBIA
ECgene alternative splicing isoforms for
NFKBIA

Expression for NFKBIA Gene

mRNA expression in normal human tissues for NFKBIA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NFKBIA Gene

SOURCE GeneReport for Unigene cluster for NFKBIA Gene Hs.81328

genes like me logo Genes that share expressions with NFKBIA: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NFKBIA Gene

Orthologs for NFKBIA Gene

This gene was present in the common ancestor of animals.

Orthologs for NFKBIA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFKBIA 35
  • 99.68 (n)
  • 99.68 (a)
NFKBIA 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BIKBA 36
  • 95 (a)
OneToOne
NFKBIA 35
  • 92.36 (n)
  • 94.59 (a)
dog
(Canis familiaris)
Mammalia NFKBIA 35
  • 92.78 (n)
  • 93.95 (a)
NFKBIA 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfkbia 35
  • 89.7 (n)
  • 92.04 (a)
Nfkbia 16
Nfkbia 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NFKBIA 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFKBIA 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfkbia 35
  • 90.55 (n)
  • 91.72 (a)
chicken
(Gallus gallus)
Aves NFKBIA 35
  • 74.27 (n)
  • 74.92 (a)
NFKBIA 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFKBIA 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24269 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nfkbia 35
  • 64.33 (n)
  • 62.54 (a)
Str.10661 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1788 35
zebrafish
(Danio rerio)
Actinopterygii nfkbiaa 35
  • 60.99 (n)
  • 54.61 (a)
nfkbiaa 36
  • 49 (a)
OneToMany
nfkbiab 36
  • 49 (a)
OneToMany
wufb81f08 35
African malaria mosquito
(Anopheles gambiae)
Insecta CACT 35
  • 44.74 (n)
  • 36.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta cact 35
  • 50.74 (n)
  • 41.07 (a)
cact 36
  • 20 (a)
OneToMany
cact 37
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
OneToMany
Species with no ortholog for NFKBIA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NFKBIA Gene

ENSEMBL:
Gene Tree for NFKBIA (if available)
TreeFam:
Gene Tree for NFKBIA (if available)

Paralogs for NFKBIA Gene

Paralogs for NFKBIA Gene

Selected SIMAP similar genes for NFKBIA Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NFKBIA: view

Variants for NFKBIA Gene

Sequence variations from dbSNP and Humsavar for NFKBIA Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs696 -- 35,401,887(-) TGCCT(A/G)GCCCA utr-variant-3-prime
rs8904 -- 35,402,011(-) ATGAG(C/T)GCAAA utr-variant-3-prime
rs1022714 -- 35,402,201(+) CTGAG(A/G)GAGTT intron-variant
rs1050851 -- 35,403,720(-) CTGGC(C/T)TTCCT reference, synonymous-codon
rs1131420 -- 35,401,942(-) AAAAA(A/G)AAAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for NFKBIA Gene

Variant ID Type Subtype PubMed ID
nsv901616 CNV Loss 21882294
dgv1872n71 CNV Loss 21882294
nsv901618 CNV Loss 21882294

Relevant External Links for NFKBIA Gene

HapMap Linkage Disequilibrium report
NFKBIA
Human Gene Mutation Database (HGMD)
NFKBIA
Locus Specific Mutation Databases (LSDB)
NFKBIA

PCR Panel Products

  • Copy Number PCR Panels: for NFKBIA

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

Disorders for NFKBIA Gene

(1) OMIM Diseases for NFKBIA Gene (164008)

UniProtKB/Swiss-Prot

IKBA_HUMAN
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. {ECO:0000269 PubMed:14523047, ECO:0000269 PubMed:18412279}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for NFKBIA Gene

(82) Novoseek inferred disease relationships for NFKBIA Gene

Disease -log(P) Hits PubMed IDs
necrosis 77.2 90
tumors 65.9 100
inflammation 65.4 10
leukemia t-cell 51.8 3
ectodermal dysplasia 42.1 5

Relevant External Links for NFKBIA

Genetic Association Database (GAD)
NFKBIA
Human Genome Epidemiology (HuGE) Navigator
NFKBIA
genes like me logo Genes that share disorders with NFKBIA: view

Publications for NFKBIA Gene

  1. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. (PMID: 14523047) Courtois G. … Casanova J.L. (J. Clin. Invest. 2003) 3 4 23 48
  2. Identification of polymorphisms of the IkappaBalpha gene associated with an increased risk of multiple myeloma. (PMID: 12377412) Parker K.M. … Berenson J.R. (Cancer Genet. Cytogenet. 2002) 3 23 48
  3. Mapping of the inducible IkappaB phosphorylation sites that signal its ubiquitination and degradation. (PMID: 8657102) DiDonato J.A. … Karin M. (Mol. Cell. Biol. 1996) 3 4 23
  4. HLA, NFKB1 and NFKBIA gene polymorphism profile in autoimmune diabetes mellitus patients. (PMID: 17318773) Katarina K. … Marie C. (Exp. Clin. Endocrinol. Diabetes 2007) 3 23 48
  5. Association of NFKBIA polymorphism with colorectal cancer risk and prognosis in Swedish and Chinese populations. (PMID: 17354114) Gao J. … Sun X.F. (Scand. J. Gastroenterol. 2007) 3 23 48

Products for NFKBIA Gene

Sources for NFKBIA Gene

Back to Top

Content