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Aliases for NFKBIA Gene

Aliases for NFKBIA Gene

  • NFKB Inhibitor Alpha 2 3
  • Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor, Alpha 2 3 5
  • 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
  • IKBA 3 4
  • Nuclear Factor Of Kappa Light Chain Gene Enhancer In B-Cells 3
  • NF-Kappa-B Inhibitor Alpha 2
  • 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 (NFKB 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 RANK Signaling in Osteoclasts and Development VEGF signaling via VEGFR2 - generic cascades. GO annotations related to this gene include identical protein binding and transcription factor 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

Enhancers for NFKBIA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NFKBIA on UCSC Golden Path with GeneCards custom track

Promoters for NFKBIA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NFKBIA on UCSC Golden Path with GeneCards custom track

Genomic Location for NFKBIA Gene

Chromosome:
14
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

Genes around NFKBIA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFKBIA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 22
  • Modification sites at PhosphoSitePlus

Other Protein References for NFKBIA Gene

No data available for DME Specific Peptides for NFKBIA Gene

Domains & Families for NFKBIA Gene

Gene Families for NFKBIA Gene

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 :
  • Belongs to the NF-kappa-B inhibitor family.
  • Contains 5 ANK repeats.
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:0008139 nuclear localization sequence binding IPI 1493333
GO:0051059 NF-kappaB binding IEA,IPI 7739562
genes like me logo Genes that share ontologies with NFKBIA: view
genes like me logo Genes that share phenotypes with NFKBIA: view

Human Phenotype Ontology for NFKBIA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFKBIA Gene

MGI Knock Outs for NFKBIA:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytosol 5
nucleus 5
plasma membrane 5
extracellular 2
mitochondrion 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NFKBIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033256 I-kappaB/NF-kappaB complex TAS 16938301
genes like me logo Genes that share ontologies with NFKBIA: view

Pathways & Interactions for NFKBIA Gene

SuperPathways for NFKBIA Gene

Superpath Contained pathways
1 MyD88 cascade initiated on plasma membrane
2 TWEAK Pathway
3 4-1BB Pathway
4 Cytosolic sensors of pathogen-associated DNA
5 Toll-Like receptor Signaling Pathways
genes like me logo Genes that share pathways with NFKBIA: view

Pathways by source for NFKBIA Gene

SIGNOR curated interactions for NFKBIA Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NFKBIA Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0006915 apoptotic process TAS 10747850
GO:0007253 cytoplasmic sequestering of NF-kappaB IEA,IMP 16938301
genes like me logo Genes that share ontologies with NFKBIA: view

Drugs & Compounds for NFKBIA Gene

(75) Drugs for NFKBIA Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspirin Approved Pharma Channel blocker, Target 1059

(62) Additional Compounds for NFKBIA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NFKBIA: view

Transcripts for NFKBIA Gene

Unigene Clusters for NFKBIA Gene

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

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

Protein differential expression in normal tissues from HIPED for NFKBIA Gene

This gene is overexpressed in Heart (12.3) and Lymph node (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NFKBIA: view

Protein tissue co-expression partners for NFKBIA Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
cow
(Bos Taurus)
Mammalia NFKBIA 35
  • 92.36 (n)
  • 94.59 (a)
BIKBA 36
  • 95 (a)
OneToOne
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
chimpanzee
(Pan troglodytes)
Mammalia NFKBIA 35
  • 99.68 (n)
  • 99.68 (a)
NFKBIA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfkbia 35
  • 90.55 (n)
  • 91.72 (a)
oppossum
(Monodelphis domestica)
Mammalia NFKBIA 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFKBIA 36
  • 78 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia nfkbia 35
  • 64.33 (n)
  • 62.54 (a)
Str.10661 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.24269 35
zebrafish
(Danio rerio)
Actinopterygii nfkbiaa 35
  • 60.99 (n)
  • 54.61 (a)
wufb81f08 35
nfkbiaa 36
  • 49 (a)
OneToMany
nfkbiab 36
  • 49 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1788 35
fruit fly
(Drosophila melanogaster)
Insecta cact 37
  • 37 (a)
cact 35
  • 50.74 (n)
  • 41.07 (a)
cact 36
  • 20 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta CACT 35
  • 44.74 (n)
  • 36.89 (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

(4) 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
rs28933100 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant (ADEDAID) 35,404,550(-) CGACA(G/T)CGGCC reference, missense
rs8904 -- 35,402,011(-) ATGAG(C/T)GCAAA utr-variant-3-prime
rs1803939 -- 35,402,038(-) TGTGT(C/T)TGGAG reference, missense
rs3138048 -- 35,406,728(-) ATATA(C/T)TGCCA upstream-variant-2KB
rs3138049 -- 35,406,727(-) TATAC(G/T)GCCAA upstream-variant-2KB

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

Variation tolerance for NFKBIA Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFKBIA Gene

Human Gene Mutation Database (HGMD)
NFKBIA

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

Disorders for NFKBIA Gene

MalaCards: The human disease database

(17) MalaCards diseases for NFKBIA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency
  • ectodermal dysplasia, hypohidrotic, with immune deficiency
hypohidrotic ectodermal dysplasia with immunodeficiency
  • ectodermal dysplasia, hypohidrotic, with immune deficiency
ectodermal dysplasia
leukorrhea
  • discharge - leukorrhea
rocky mountain spotted fever
  • brazillian spotted
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for NFKBIA

Genetic Association Database (GAD)
NFKBIA
Human Genome Epidemiology (HuGE) Navigator
NFKBIA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFKBIA
genes like me logo Genes that share disorders with NFKBIA: view

No data available for Genatlas for NFKBIA Gene

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 48 67
  2. The human Cdc34 carboxyl terminus contains a non-covalent ubiquitin binding activity that contributes to SCF-dependent ubiquitination. (PMID: 20353940) Choi Y.S. … Cheong C. (J. Biol. Chem. 2010) 3 23
  3. The orphan nuclear receptor Nur77 suppresses endothelial cell activation through induction of IkappaBalpha expression. (PMID: 19213954) You B. … Sun J. (Circ. Res. 2009) 3 23
  4. Immunoreactivity of progesterone receptor isoform B, nuclear factor kappaB, and IkappaBalpha in adenomyosis. (PMID: 19296948) Nie J. … Guo S.W. (Fertil. Steril. 2009) 3 23
  5. C/EBPbeta enhances NF-kappaB-associated signalling by reducing the level of IkappaB-alpha. (PMID: 19733238) Cappello C. … Brand K. (Cell. Signal. 2009) 3 23

Products for NFKBIA Gene

Sources for NFKBIA Gene

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