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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NFKBIA Gene

protein-coding GIFtS: 72
GCID: GC14M035870

nuclear factor of kappa light polypeptide gene enhancer...

(Previous symbol: NFKBI)

Explore 129 diseases affiliated with
NFKBIA via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nuclear Factor Of Kappa Light Polypeptide Gene Enhancer In B-Cells Inhibitor, Alpha¹ ²		I-Kappa-B-Alpha¹
IKBA¹ ² ³ ⁵		IkB-Alpha¹
IkappaBalpha¹ ² ³		NF-Kappa-B Inhibitor Alpha²
NFKBI¹ ² ³		Nuclear Factor Of Kappa Light Chain Gene Enhancer In B-Cells²
MAD-3¹ ²		IkB-Alpha¹
Major Histocompatibility Complex Enhancer-Binding Protein MAD3² ³		MAD3³

External Ids:	HGNC: 7797¹	Entrez Gene: 4792²	Ensembl: ENSG00000100906⁷	OMIM: 164008⁵	UniProtKB: P25963³

Export aliases for NFKBIA gene to outside databases

Previous GC identifers: GC14M033248 GC14M029658 GC14M033860 GC14M034940 GC14M015984

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NFKBIA:

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)

UniProtKB/Swiss-Prot: IKBA_HUMAN, P25963

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

Gene Wiki entry for NFKBIA (IκBα)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NFKBIA gene promoter:
AP-1 ATF-2 CUTL1 CREB deltaCREB STAT3 Sox9 c-Jun Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): NFKBIA promoter sequence

Search SABiosciences Chromatin IP Primers for NFKBIA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFKBIA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13 Ensembl cytogenetic band: 14q13.2 HGNC cytogenetic band: 14q13

NFKBIA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFKBIA gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M035870: view genomic region (about GC identifiers)

Start:	35,870,716 bp from pter	End:	35,873,960 bp from pter
Size:	3,245 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IKBA_HUMAN, P25963 (See protein sequence)

Recommended Name: NF-kappa-B inhibitor alpha

Size: 317 amino acids; 35609 Da

Subunit: 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 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

Subcellular location: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization

signal (NLS) and a CRM1-dependent nuclear export (By similarity)

2 PDB 3D structures from and Proteopedia for NFKBIA:

1IKN (3D)

1NFI (3D)

Secondary accessions: B2R8L6

Explore the universe of human proteins at neXtProt for NFKBIA: NX_P25963

Post-translational modifications:

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 degradation¹

Sumoylated; sumoylation requires the presence of the nuclear import signal¹

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-36¹

Deubiquitinated by porcine reproductive and respiratory syndrome virus Nsp2 protein, which thereby interferes with

NFKBIA degradation and impairs subsequent NF-kappa-B activation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P25963

NFKBIA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_065390.1

ENSEMBL proteins:

ENSP00000216797 ENSP00000450537 ENSP00000451257 ENSP00000450514 ENSP00000451281

Reactome Protein details: P25963
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for NFKBIA
	OriGene Purified Protein: NFKBIA OriGene Protein Over-expression Lysate: NFKBIA OriGene Custom Protein Services for NFKBIA
	GenScript Custom Purified and Recombinant Proteins Services for NFKBIA
	Novus Biologicals NFKBIA Proteins Novus Biologicals NFKBIA Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for NFKBIA
	Browse Proteins at Uscn

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

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

NFKBIA for ontologies About GeneDecksing

NFKBIA Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of NFKBIA
	R&D Systems Antibodies for NFKBIA (IkB-alpha)
	Cell Signaling Technology (CST) Antibodies for NFKBIA (IkB-alpha)
	OriGene Antibodies (see all 5): NFKBIA OriGene Custom Antibody Services for NFKBIA
	GenScript Custom Superior Antibodies Services for NFKBIA
	Novus Biologicals NFKBIA Antibodies
	Abcam antibodies for NFKBIA
	Browse Antibodies at Uscn
	ThermoFisher Antibody for NFKBIA

Assay Products for NFKBIA:

	EMD Millipore Kits and Assays for the Analysis of NFKBIA
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for NFKBIA (IkB-alpha)
	GenScript Custom Assay Services for NFKBIA
	Cell Signaling Technology (CST) Sandwich ELISA Kits for NFKBIA (IkB-alpha)
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NFKBIA for domains About GeneDecksing

2 InterPro domains/families:

IPR020683 Ankyrin_rpt-contain_dom

IPR002110 Ankyrin_rpt

Graphical View of Domain Structure for InterPro Entry P25963

ProtoNet protein and cluster: P25963

1 Blocks protein family: IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: IKBA_HUMAN, P25963

Similarity: Belongs to the NF-kappa-B inhibitor family

Similarity: Contains 5 ANK repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: IKBA_HUMAN, P25963

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

Induction: Induced in adherent monocytes

Genatlas biochemistry entry for NFKBIA:

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

miRNA Products:		miRTarBase miRNAs that target NFKBIA: kshv-mir-k12-1 (MIRT003202)

		OriGene 3'-UTR Clone: NFKBIA Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NFKBIA
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate NFKBIA (see all 9):
		hsa-miR-300 hsa-miR-548e hsa-miR-381 hsa-let-7a-2* hsa-miR-624* hsa-miR-548a-3p hsa-miR-493* hsa-let-7g*

		SwitchGear 3'UTR luciferase reporter plasmid: NFKBIA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NFKBIA (see all 7) OriGene shRNA RFP: NFKBIA OriGene siRNA: NFKBIA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NFKBIA

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for NFKBIA

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NFKBIA (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NFKBIA OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: NFKBIA (NM_020529)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFKBIA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFKBIA

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for NFKBIA
		Search LifeMap BioReagents cell lines for NFKBIA

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFKBIA

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	9452483
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	--

NFKBIA for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for NFKBIA:

Decreased nuclei size in G2M

Decreased number of cells in m

Upregulation of NF-kappaB path

Animal Models:
Mouse knock-outs for NFKBIA: Nfkbia^tm1Stw Nfkbia^tm1Fey Nfkbia^tm1.1Kbp
8 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Nfkbia):

cellular	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	mortality/aging	normal

NFKBIA for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/111 super-pathways (see all 111) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TRAF6 Mediated Induction of proinflammatory cytokines

8/18 pathways (see all 18)
TRAF6 Mediated Induction of proinflammatory cytokines	1.00	Toll Like Receptor TLR1:TLR2 Cascade	0.78
Toll Like Receptor 5 (TLR5) Cascade	0.86	Toll Like Receptor 2 (TLR2) Cascade	0.78
Toll Like Receptor 10 (TLR10) Cascade	0.86	MyD88:Mal cascade initiated on plasma membrane	0.78
MyD88 cascade initiated on plasma membrane	0.86	TRIF-mediated TLR3/TLR4 signaling	0.73

TWEAK Pathway

8/12 pathways (see all 12)
TWEAK Pathway	1.00	Apoptosis and survival TNFR1 signaling pathway	0.40
DR3 Signaling	0.87	TRAIL Pathway	0.40
TNFR1 Pathway	0.53	TNF Signaling	0.40
GITR Pathway	0.46	Apoptotic Pathways Triggered By HIV1	0.37

4-1BB Pathway

8/9 pathways (see all 9)
4-1BB Pathway	1.00	NF-KappaB Activation by EBV	0.31
CD40 Signaling	0.54	SUMO Pathway	0.30
CD27 Pathway	0.48	TNFR2 Pathway	0.29
CMV and MAPK Pathways	0.38	NF-kappaB Activation by Viruses	0.15

Development_PDGF signaling via STATs and NF-kB

Development_PDGF signaling via STATs and NF-kB	1.00	Development_Angiopoietin - Tie2 signaling	0.38
Development PDGF signaling via STATs and NF-kB	1.00	Development Angiopoietin - Tie2 signaling	0.38
Immune response_IL-23 signaling pathway	0.44	IL23-mediated signaling events	0.15
Immune response IL-23 signaling pathway	0.41

BAFF in B-Cell Signaling

BAFF in B-Cell Signaling	1.00	Apoptosis and survival APRIL and BAFF signaling	0.39
APRIL Pathway	0.92	RANK Pathway	0.29
RANK Signaling in Osteoclasts	0.45	RANKL/RANK Signaling Pathway	0.24
Apoptosis and survival_APRIL and BAFF signaling	0.39

Pathway sources
See GeneCards unified pathways
Show all pathways

5/43 EMD Millipore Pathways for NFKBIA (see all 43)

	Immune response MIF-mediated glucocorticoid regulation
	Immune response MIF in innate immunity response
	Development TGF-beta receptor signaling
	Immune response IL-1 signaling pathway
	Immune response Toll-like receptor (TLR) ligands and common TLR signaling pathway leading to cell proinflammatory response

2 R&D Systems Pathways for NFKBIA

	Inflammasome Activation Pathways
	Toll-Like receptor Signaling Pathways

5/65 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NFKBIA (see all 65)

	Toll-Like Receptors Pathway
	Molecular Mechanisms of Cancer
	NF-kappaB Activation by Viruses
	ITK and TCR Signaling
	RANK Pathway

1 Cell Signaling Technology (CST) Pathway for NFKBIA

NF-kappaB Signaling

2 Tocris Bioscience Pathways for NFKBIA

	Toll-like Receptor Pathway
	NF-kappaB Pathway

5/50 GeneGo (Thomson Reuters) Pathways for NFKBIA (see all 50)

	Development A2A receptor signaling
	Immune response Bacterial infections in normal airways
	Immune response MIF in innate immunity response
	Development EGFR signaling pathway
	Signal transduction AKT signaling

5/28 BioSystems Pathways for NFKBIA (see all 28)

	Oncostatin M Signaling Pathway
	AGE/RAGE pathway
	Apoptosis
	Apoptosis Modulation and Signaling
	NOD pathway

5/39 Reactome Pathways for NFKBIA (see all 39)

	Toll Like Receptor 2 (TLR2) Cascade
	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
	Toll Like Receptor TLR6:TLR2 Cascade
	TAK1 activates NFkB by phosphorylation and activation of IKKs complex
	Toll Like Receptor 3 (TLR3) Cascade

5/23 Kegg Pathways (Kegg details for NFKBIA) (see all 23):

	Chemokine signaling pathway
	Apoptosis
	Osteoclast differentiation
	Toll-like receptor signaling pathway
	NOD-like receptor signaling pathway

NFKBIA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NFKBIA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/228 Interacting proteins for NFKBIA (P25963^{1, 2, 3} ENSP00000216797⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 228)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NFKB1	P19838¹^,²^,³, ENSP00000226574⁴	EBI-307386,EBI-300010 MINT-48656 MINT-47903 MINT-47885 MINT-48541 I2D: score=8 STRING: ENSP00000226574
RELA	Q04206¹^,²^,³, ENSP00000384273⁴	EBI-307386,EBI-73886 MINT-48917 MINT-47847 I2D: score=11 STRING: ENSP00000384273
CHUK	O15111¹^,²^,³, ENSP00000359424⁴	EBI-307386,EBI-81249 MINT-47841 I2D: score=8 STRING: ENSP00000359424
IKBKB	O14920¹^,²^,³, ENSP00000339151⁴	EBI-307386,EBI-81266 MINT-47842 I2D: score=8 STRING: ENSP00000339151
IKBKG	Q9Y6K9¹^,²^,³, ENSP00000358622⁴	EBI-307386,EBI-356130 MINT-47843 I2D: score=7 STRING: ENSP00000358622

About this table

Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000060	protein import into nucleus, translocation	IEA	--
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

NFKBIA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NFKBIA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NFKBIA
10/137 Novoseek chemical compound relationships for NFKBIA gene (see all 137) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pdtc	82.1	17	11006087 (2), 16772089 (1), 19662350 (1), 19722233 (1) (see all 14)
tpck	75.4	14	15791843 (3), 12411051 (2), 10381628 (1), 12198114 (1)
mg 132	65	11	10930537 (1), 11301346 (1), 11464292 (1), 15845394 (1) (see all 9)
ly294002	62.6	13	12086898 (2), 11689575 (1), 18771813 (1), 11796489 (1) (see all 9)
sb 203580	60.5	10	10428782 (2), 11120850 (1), 16772089 (1), 16806824 (1) (see all 8)
parthenolide	60.1	7	16778086 (1), 18846331 (1), 15256485 (1), 10704251 (1) (see all 5)
curcumin	59	26	16081677 (2), 12393461 (2), 16299251 (1), 16519151 (1) (see all 17)
n-tosyl-l-phenylalanine chloromethyl ketone	58	6	16288038 (1), 10722693 (1), 12198114 (1), 15280021 (1)
pd 98,059	53	7	11322796 (3), 15893541 (1), 18996613 (1), 19288477 (1)
acetyl-11-keto-beta-boswellic acid	50.8	1	15611276 (1)

Search CenterWatch for drugs/clinical trials and news about NFKBIA / IKBA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NFKBIA gene:

NM_020529.2

Unigene Cluster for NFKBIA:

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

Hs.81328 [show with all ESTs]

Unigene Representative Sequence: BM908726

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216797(uc001wtf.4) ENST00000554001 ENST00000557140 ENST00000557389

ENST00000555371 ENST00000557100 ENST00000556664 ENST00000557459 ENST00000555629

ENST00000553342

miRNA Products:		OriGene 3'-UTR Clone: NFKBIA Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NFKBIA
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate NFKBIA (see all 9):
		hsa-miR-300 hsa-miR-548e hsa-miR-381 hsa-let-7a-2* hsa-miR-624* hsa-miR-548a-3p hsa-miR-493* hsa-let-7g*

		SwitchGear 3'UTR luciferase reporter plasmid: NFKBIA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NFKBIA (see all 7) OriGene shRNA RFP: NFKBIA OriGene siRNA: NFKBIA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NFKBIA

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NFKBIA (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NFKBIA OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: NFKBIA (NM_020529)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFKBIA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFKBIA

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NFKBIA Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat NFKBIA
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NFKBIA
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NFKBIA

Additional cDNA sequence:

AK311515.1 AK313421.1 AY033600.1 BC002601.2 BC004983.1 BT007091.1 M69043.1

24/31 DOTS entries (see all 31):

DT.456318 DT.100879311 DT.100879299 DT.100879303 DT.97858073 DT.100700347 DT.95348555 DT.100044299

DT.120746013 DT.100879292 DT.100879313 DT.120746036 DT.120746044 DT.100879297 DT.120746032 DT.120746042

DT.120746050 DT.100879308 DT.100879312 DT.92449292 DT.100044722 DT.100879294 DT.120746001 DT.100687712

24/544 AceView cDNA sequences (see all 544):

BU731626 CA941287 N23089 BM848053 W60568 CR593002 CD370833 BQ215714

CR604111 CR589981 AA906793 CR615977 CA306431 BM794540 CR610623 AI288741

BM847573 CR592525 BM760843 BM699723 AA935382 CR596344 CR613814 AA339896

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for NFKBIA (see all 9) About this scheme

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

ECgene alternative splicing isoforms for NFKBIA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NFKBIA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAACAGCCAG

About this image

NFKBIA expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NFKBIA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NFKBIA

SOURCE GeneReport for Unigene cluster: Hs.81328

SABiosciences Expression via Pathway-Focused PCR Arrays including NFKBIA (see all 15):

Oncogenes & Tumor Suppressor Genes in human mouse rat

HIV Host Response in human mouse rat

NFKB Signaling Targets in human mouse rat

Antiviral Response in human mouse rat

Toll-Like Receptor Signaling Pathway in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NFKBIA Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFKBIA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NFKBIA gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	NFKBIA¹	nuclear factor of kappa light polypeptide gene enhancer more	72.8(n) 72.9(a)		396093 NM_001001472.2 NP_001001472.2
lizard (Anolis carolinensis)	Reptilia	NFKBIA⁶	--	69(a)	1 ↔ 1	2(54401922-54406386)
African clawed frog (Xenopus laevis)	Amphibia	Xl.24269²	Xenopus laevis transcribed sequence with weak similarity more	76.37(n)		BX844178.1
zebrafish (Danio rerio)	Actinopterygii	wufb81f08²	wufb81f08	77.7(n)		323099 BC062524.1
fruit fly (Drosophila melanogaster)	Insecta	cact^{1 , 3}	antifungal humoral response (sensu Invertebrata) more³ cactus¹	37(a)³ 50.89(n)¹ 41.07(a)¹		34969¹ NM_057594.3¹ NP_476942.1¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NFKBIA gene

NFKBID² NFKBIB² NFKBIE² BCL3² NFKBIZ²

4 SIMAP similar genes for NFKBIA using alignment to 5 protein entries: IKBA_HUMAN (see all proteins):

IkBa NFKBIE NFKB1 ANKDD1A

NFKBIA for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11569620^1,2	C,F,	--	15984662(-)	`AGAAGG/TTTATC`	1	--	ut3¹		4	NS NA	96
rs11569608^1,2	C,F	--	15984848(-)	`AGAAAAAA/-GAAGA`	2	--	ut3¹		2	NS	90
rs112823297^1,2	C	--	15986078(+)	`AGACAA/G/TACCAT`	1	--	int¹		1	CSA	1
rs113316639^1,2	C	--	15986079(+)	`GACATA/G/TCCATT`	1	--	spd¹		1	CSA	1
rs2233416^1,2	C,F,H,	--	15986490(-)	`NNNNCC/TCACAT`	1	--	int¹		10	NS NA CSA WA EA	496
rs11569619^1,2	C	--	15986509(-)	`CCTCAC/TCTTTT`	1	--	int¹		3	NS NA	96
rs11569600^1,2	C,	--	15986520(-)	`GCACTA/GTTCAC`	1	--	int¹		2	NS	94
rs11569618^1,2	C	--	15986523(-)	`TGAGCA/CCTATT`	1	--	int¹		4	NS NA	98
rs11569598^1,2	C,F,	--	15987071(-)	`GGGGGC/TGGGGC`	1	--	int¹		2	NS	92
rs11569596^1,2	C,	--	15987223(-)	`CCGCGG/-CACCC`	1	--	int¹		2	NS	94

HapMap Linkage Disequilibrium report for NFKBIA (35870716 - 35873960 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NFKBIA: --
Human Gene Mutation Database (HGMD): NFKBIA

Locus Specific Mutation Databases (LSDB): NFKBIA

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing NFKBIA:

Glioma

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NFKBIA

DNA2.0 Custom Variant and Variant Library Synthesis for NFKBIA

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NFKBIA for disorders           About GeneDecksing

OMIM gene information: 164008
OMIM disorders: 612132
UniProtKB/Swiss-Prot: IKBA_HUMAN, P25963

Defects in NFKBIA are the cause of ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal

dominant (ADEDAID) [MIM:612132]. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal

development of two or more ectodermal structures. ADEDAID is an ectodermal dysplasia associated with decreased

production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection

20/129 diseases for NFKBIA (see all 129): About MalaCards

ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency ectodermal dysplasia spinal cord injury immunodeficiency

diffuse large b-cell lymphoma human t-cell leukemia virus type 1 b-cell lymphomas salivary gland cancer

autosomal dominant disease alcoholic liver cirrhosis lupus erythematosus burkitt's lymphoma

insulin resistance ankylosing spondylitis liver cirrhosis oral squamous cell carcinoma

malignant glioma mantle cell lymphoma systemic lupus erythematosus lymphocytic leukemia

4 diseases from the University of Copenhagen DISEASES database for NFKBIA:

Cancer Arthritis Atherosclerosis Inflammatory bowel disease

10/82 Novoseek disease relationships for NFKBIA gene (see all 82) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
necrosis	77.2	107	10567330 (2), 17409387 (2), 20403612 (2), 10722693 (2) (see all 83)
tumors	65.9	122	10567330 (2), 17409387 (2), 20403612 (2), 10722693 (2) (see all 93)
inflammation	65.4	11	10364447 (2), 10964761 (1), 19542021 (1), 17108131 (1) (see all 9)
leukemia t-cell	51.8	3	8676482 (1), 9632633 (1), 10336413 (1)
ectodermal dysplasia	42.1	8	17931563 (2), 18794870 (1), 11224521 (1), 20080849 (1)
cancer	40.5	25	15671248 (4), 11520600 (2), 19857958 (2), 15256061 (2) (see all 15)
rheumatoid arthritis	35.5	2	10072544 (1), 17701919 (1)
lymphocytic leukemia chronic b-cell	30	1	17568818 (1)
myeloma	29	7	12377412 (1), 15781640 (1), 17701919 (1), 11740821 (1) (see all 7)
hnscc	26.5	5	17785205 (1), 16953224 (1), 18448428 (1)

Genetic Association Database (GAD): NFKBIA
Human Genome Epidemiology (HuGE) Navigator: NFKBIA (68 documents)

Export disorders for NFKBIA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NFKBIA gene, integrated from 9 sources (see all 1202):
(articles sorted by number of sources associating them with NFKBIA)

Utopia: connect your pdf to the dynamic
world of online information

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. (PubMed id 14523047)^{1, 2, 4, 9} Courtois G.... Casanova J.L. (2003)
Characterization of an immediate-early gene induced in adherent monocytes that encodes I kappa B-like activity. (PubMed id 1829648)^{1, 2, 3} Haskill S.... Baldwin A.S. Jr. (1991)
A subclass of Ras proteins that regulate the degradation of IkappaB. (PubMed id 10657303)^{1, 2, 9} Fenwick C....Ghosh S. (2000)
Mapping of the inducible IkappaB phosphorylation sites that signal its ubiquitination and degradation. (PubMed id 8657102)^{1, 2, 9} DiDonato J.A....Karin M. (1996)
Priming and extending: a UbcH5/Cdc34 E2 handoff mecha nism for polyubiquitination on a SCF substrate. (PubMed id 20347421)^{1, 2} Wu K....Pan Z.Q. (2010)
RSUME, a small RWD-containing protein, enhances SUMO conjugation and stabilizes HIF-1alpha during hypoxia. (PubMed id 17956732)^{1, 2} Carbia-Nagashima A.... Arzt E. (2007)
Protein methyltransferase 2 inhibits NF-kappaB function and promotes apoptosis. (PubMed id 16648481)^{1, 2} Ganesh L....Nabel G.J. (2006)
Posttranslational hydroxylation of ankyrin repeats in IkappaB proteins by the hypoxia-inducible factor (HIF) asparaginyl hydroxylase, factor inhibiting HIF (FIH). (PubMed id 17003112)^{1, 2} Cockman M.E....Ratcliffe P.J. (2006)
Germline mutations and polymorphisms in the NFKBIA gene in Hodgkin lymphoma. (PubMed id 15858823)^{1, 4} Osborne J....Jarrett R.F. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4792	HGNC: 7797	AceView: NFKBIA	Ensembl:ENSG00000100906	euGenes: HUgn4792
ECgene: NFKBIA	Kegg: 4792	H-InvDB: NFKBIA

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NFKBIA	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for NFKBIA	Genetics and Cytogenetics in Oncology and Haematology
NFKBIAbase	http://bioinf.uta.fi/NFKBIAbase/
SeattleSNPs	http://pga.gs.washington.edu/data/nfkbia/

Intellectual Property for NFKBIA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NFKBIA gene:
Search GeneIP for patents involving NFKBIA

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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nuclear factor of kappa light polypeptide gene enhancer...

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