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NFKBIA Gene

protein-coding GIFtS: 74

GC14M034940

nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: NFKBI)

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

Aliases
I-kappa-B-alpha ^³
IKBA ^¹, ², ³, ⁵
IkB-alpha ^³
IkappaBalpha ^¹, ², ³
MAD-3 ^¹, ²
MAD3 ^³
NFKBI ^², ³

Descriptions
Major histocompatibility complex enhancer-binding protein MAD3 ^³
nuclear factor of kappa light chain gene enhancer in B-cells ^²
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha ^²

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

Search outside databases for aliases for NFKBIA gene

Previous GC identifers: GC14M033248 GC14M029658 GC14M033860

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

EntrezGene summary for NFKBIA:

NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB

(MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA

or NFKBIB, MIM 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm.

Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or

IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing

activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and

binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC

3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by

OMIM]

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 tranlocate to the nucleus and activate transcription

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the NFKBIA gene

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)

GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M034940: (about GC identifiers)

Start:	34,940,468 bp from pter
End:	34,943,703 bp from pter
Size:	3,236 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000014.7 NT_026437.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

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)

PDB structure from and Proteopedia :

1IKN (3D)

1NFI (3D)

Post-translational modifications:

Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity¹

Ubiquitinated; subsequent to stimulus-dependent phosphorylation on serines¹

Sumoylated; sumoylation requires the presence of the nuclear import signal¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_065390.1

ENSEMBL proteins:

ENSP00000216797

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant NFKBIA Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for NFKBIA
	Recombinant Proteins from Abcam (cleaved IKB alpha, IKB alpha)
	Human Recombinant Proteins from Abnova (NFKBIA)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	7679069
GO:0005737	cytoplasm	IDA	3140380
GO:0005829	cytosol	IEA	--
GO:0033256	I-kappaB/NF-kappaB complex	TAS	16938301

About this table

Antibodies for NFKBIA:

	Invitrogen Antibodies for NFKBIA
	Millipore Mono- and Polyclonal Antibodies for the study of NFKBIA
	Sigma-Aldrich Antibody Arrays and Antibodies for NFKBIA
	R&D Systems Antibodies for NFKBIA (IkB-alpha)
	Cell Signaling Technology (CST) Antibodies for NFKBIA (IkappaB-alpha)
	Antibodies from Abcam (cleaved IKB alpha, IKB alpha), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (NFKBIA)
	Novus Biologicals Antibodies for NFKBIA

Assays for NFKBIA:

	Invitrogen Assays for NFKBIA
	Millipore Kits and Assays for the Analysis of NFKBIA
	Browse R&D Systems for biochemical assays
	Cell Signaling Technology (CST) Sandwich ELISA Kits for NFKBIA (IkappaB-alpha)
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (NFKBIA)
		Millipore RNAi Products for the Analysis of NFKBIA Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (NFKBIA)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020529

Applied Biosystems Silencer® siRNAs for NFKBIA

Sigma-Aldrich siRNA and siRNA Panels for NFKBIA

Sigma-Aldrich shRNA Panels and shRNA for NFKBIA

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for NFKBIA
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_020529
Myc/DDK tagged cDNA clone in CMV expression vector: NM_020529
untagged cDNA clone in CMV expression vector: NM_020529

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_020529

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 tranlocate 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

9 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Nfkbia):

cellular	growth/size	hematopoietic system	homeostasis/metabolism	immune system
lethality-postnatal	lethality-prenatal/perinatal	normal	skin/coat/nails

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008139	nuclear localization sequence binding	IPI	1493333
GO:0031625	ubiquitin protein ligase binding	IPI	9859996
GO:0042802	identical protein binding	IPI	16951195
GO:0051059	NF-kappaB binding	IPI	7739562

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/42 Sigma-Aldrich "Your Favorite Gene" Pathways for NFKBIA (Your Favorite Gene powered by Ingenuity) (see all 42 )

LPS-stimulated MAPK Signaling
Prostate Cancer Signaling
PI3K/AKT Signaling
NF-&kappa
fMLP Signaling in Neutrophils

GeneDecks NFKBIA for the pathways selected above

About GeneDecksing

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

5/207 Interacting proteins for NFKBIA (P25963^{1, 2} ENSP00000216797³) via UniProtKB, MINT, and/or STRING (see all 207 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NFKB1	P19838², ENSP00000226574³	MINT-48656 MINT-47903 MINT-47885 MINT-48541 STRING (score=.999)
NFKB2	Q00653², ENSP00000337001³	MINT-48581 MINT-48721 MINT-47846 MINT-47919 STRING (score=.928)
UBC	P62988², ENSP00000344818³	MINT-4544659 MINT-6664634 MINT-4544642 STRING (score=.999)
IKBKG	Q9Y6K9², ENSP00000358622³	MINT-47843 STRING (score=.999)
REL	Q04864², ENSP00000295025³	MINT-47837 STRING (score=.999)

About this table

5/18 Gene Ontology (GO) biological process terms (links to tree view) (see all 18 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000060	protein import into nucleus, translocation	IEA	--
GO:0006915	apoptosis	TAS	10747850
GO:0007253	cytoplasmic sequestering of NF-kappaB	IMP	16938301
GO:0010552	positive regulation of specific transcription from RNA polymerase II promoter	IMP	16938301
GO:0010745	negative regulation of foam cell differentiation	IMP	16938301

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for NFKBIA

Browse Small Molecules at Sigma-Aldrich

Compounds for NFKBIA available from Tocris Bioscience
10/54 Novoseek chemical compound relationships for NFKBIA gene (see all 54 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
acetyl-11-keto-beta-boswellic acid	53.29	1	15611276 (1)
pd 98,059	51.26	7	11322796 (3), 15893541 (1), 18996613 (1), 19288477 (1)
piceatannol	48.66	5	15050291 (1), 12444159 (1), 15502405 (1)
phosphatidylinositol	47.31	6	10364173 (1), 14872485 (1), 15705788 (1), 17671195 (1) (see all 5)
sp 600125	47.09	1	15860795 (1)
deguelin	44.02	9	16539850 (6), 17568818 (3)
celastrol	42.74	2	17110449 (1)
okadaic acid	41.78	7	16132703 (4), 12921778 (2)
wortmannin	39.91	11	11796489 (2), 11689575 (1), 16461453 (1), 17617622 (1) (see all 8)
caffeic acid phenethyl ester	39.87	3	14617683 (1), 18424438 (1), 11034947 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (NFKBIA)
		Millipore RNAi Products for the Analysis of NFKBIA Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (NFKBIA)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020529

Sigma-Aldrich siRNA and siRNA Panels for NFKBIA

Sigma-Aldrich shRNA Panels and shRNA for NFKBIA

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_020529

REFSEQ mRNAs for NFKBIA gene:

NM_020529.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_020529

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020529
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020529
                                 untagged cDNA clone in CMV expression vector: NM_020529

Additional cDNA sequence:

AK311515.1 AK313421.1 AY033600.1 BC002601.2 BC004983.1 BT007091.1 CR589981.1 CR591996.1

CR592525.1 CR593002.1 CR594547.1 CR595601.1 CR596344.1 CR600730.1 CR603242.1 CR604111.1

CR606719.1 CR610344.1 CR610623.1 CR612243.1 CR613814.1 CR615977.1 CR617669.1 CR618438.1

CR621120.1 CR623392.1 CR626144.1 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 ):

BX094258 BI761162 AA235501 CD370833 AA595964 BM754716 CA941287 CR594547

W94716 CR613814 AW304347 BM703894 BM666971 CR623392 BQ215714 AI906005

BQ228454 BU731626 BM511798 BM757891 BU782848 BM760924 BM699723 BX388598

highest scoring ESTs for NFKBIA:

M69043 AA442803 AI039745 AL549069 AU100368 AW361857 AY033600 BC002601 BC004983 BE251265

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

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for NFKBIA

1 Ensembl transcript including schematic representation:

ENST00000216797

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

NFKBIA expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for NFKBIA

¹ / ² / ³

3 probe-sets matching NFKBIA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1461_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	M69043	1.00	1.00	1.00	1
201502_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI078167	0.60	1.00	0.82	1
201502_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAACAGCCAG

SOURCE GeneReport for Unigene cluster: Hs.81328
Expression variation in blood from EXPOLDB for NFKBIA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for NFKBIA gene from 5/12 species (see all 12 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	NFKBIA¹	--	nuclear factor of kappa light polypeptide gene enhancer more	92.68(n) 93.95(a)	480291 XM_537413.2 XP_537413.2
chimpanzee (Pan troglodytes)	NFKBIA¹	--	nuclear factor of kappa light polypeptide gene enhancer more	99.58(n) 99.68(a)	467426 XM_522823.2 XP_522823.2
cow (Bos taurus)	NFKBIA¹	--	nuclear factor of kappa light polypeptide gene enhancer more	92.25(n) 94.59(a)	282291 NM_001045868.1 NP_001039333.1
rat (Rattus norvegicus)	Nfkbia¹	--	nuclear factor of kappa light polypeptide gene enhancer more	88.07(n) 88.5(a)	25493 XM_343065.3 XP_343066.2
mouse (Mus musculus)	Nfkbia^{1, 5}	12⁵	nuclear factor of kappa light polypeptide gene enhancer more^{1, 5}	89.38(n)¹ 91.72(a)¹	18035¹ NM_010907.1¹ NP_035037.1¹ AI462015⁵ AK089215⁵ (see all 14)

About this table Species with no ortholog for NFKBIA

ENSEMBL Gene Tree for NFKBIA

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

Paralogs for NFKBIA gene

NFKBIB² NFKBIE²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/82 NCBI SNPs in NFKBIA are shown (see all 82 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 47)

AB	SNP ID	Valid	Chr 14 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs3138055^1,2	A,C,F,H	34940205(-)	`TCTCCA/GTTGTC`	1	--	ng5¹		13	NA NS EU EA	2018
	rs696^1,2	A,C,F,H	34940844(-)	`TGCCTA/GGCCCA`	1	--	ut3¹ ese³		16	NA EA NS EU WA	6218
	rs2233406^1,2	A,C,F,H	34944550(-)	`CTCTGC/TTATTG`	1	--	ng3¹		7	NA NS EU EA WA	526
	rs3138053^1,2	A,C,F,H	34944605(-)	`GCACAA/GTGTAG`	1	--	ng3¹		18	NA NS EU EA WA	2002
	rs3138052^1,2	A,C,F	34944772(-)	`GGACTA/GCCTTG`	1	--	ng3¹		3	NA NS	118
	rs8904^1,2	A,C,F	34940968(-)	`ATGAGC/TGCAAA`	1	--	ut3¹		14	MN NA NS	2166
	rs2273650^1,2	C,F,H	34940549(+)	`ATTTAC/TAGGAG`	1	--	ut3¹		18	EA NS EU WA NA	5802
	rs3138050^1,2	A,C,F	34945120(-)	`AGATAC/TGAAGA`	1	--	ng3¹		3	NA NS	134
	rs3809446^1,2	A,C,F	34945128(-)	`AGGGGT/CGGAGA`	1	--	ng3¹		2	NS	94
--	rs11569611^1,2	C,F	34945327(-)	`AGTCACT/-GTTTC`	1	--	ng3¹		2	NS	94

About this table

HapMap Linkage Disequilibrium images for NFKBIA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 164008 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

10/79 Novoseek disease relationships for NFKBIA gene (see all 79 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
necrosis	76.38	98	10567330 (2), 17409387 (2), 8940099 (2), 9325328 (2) (see all 78)
tumors	64.92	110	10567330 (2), 17409387 (2), 8940099 (2), 9325328 (2) (see all 85)
inflammation	63.42	8	10364447 (2), 10964761 (1), 18823992 (1), 17108131 (1) (see all 7)
leukemia t-cell	52.35	3	8676482 (1), 9632633 (1), 10336413 (1)
ectodermal dysplasia	40.49	7	17931563 (2), 18794870 (1), 11224521 (1)
cancer	36.41	21	15671248 (4), 11520600 (2), 12527907 (2), 15256061 (2) (see all 13)
rheumatoid arthritis	33.83	2	10072544 (1), 17701919 (1)
lymphocytic leukemia chronic b-cell	32.28	1	17568818 (1)
prostate cancer	28.05	6	18468507 (2), 15856023 (1), 10815922 (1), 12393936 (1) (see all 5)
glioma	27.77	9	10364447 (3), 16050135 (2), 15010209 (1), 12859235 (1) (see all 6)

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1 PharmGKB disease relationship for NFKBIA gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

About this table

Human Gene Mutation Database: NFKBIA
Genetic Association Database: NFKBIA
Human Genome Epidemiology Navigator: NFKBIA (24 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

17/831 PubMed articles for NFKBIA gene (see all 831 ):

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. (PubMed id 14523047)^{1, 3, 4, 6} 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)^{2, 3, 4} Haskill S.... Baldwin A.S. Jr. (1991)
A subclass of Ras proteins that regulate the degradation of IkappaB. (PubMed id 10657303)^{1, 3, 4} Fenwick C....Ghosh S. (2000)
Mapping of the inducible IkappaB phosphorylation sites that signal its ubiquitination and degradation. (PubMed id 8657102)^{1, 3, 4} DiDonato J.A....Karin M. (1996)
Germline mutations and polymorphisms in the NFKBIA gene in Hodgkin lymphoma. (PubMed id 15858823)^{3, 6} 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)^{3, 4} Gerhard D.S....Malek J. (2004)
Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients. (PubMed id 14961554)^{3, 6} Kim L.H....Lee H.S. (2003)
Polymorphic variants of NFKB1 and its inhibitory protein NFKBIA, and their involvement in sporadic breast cancer. (PubMed id 12406554)^{3, 6} Curran J.E....Griffiths L.R. (2002)
Clonal deleterious mutations in the IkappaB alpha gene in the malignant cells in Hodgkin's lymphoma. (PubMed id 10637284)^{3, 4} Jungnickel B.... Kueppers R. (2000)
IKKepsilon is part of a novel PMA-inducible IkappaB kinase complex. (PubMed id 10882136)^{3, 4} Peters R.T....Maniatis T. (2000)
The effects of calpain inhibition on IkB alpha degradation after activation of PBMCs: identification of the calpain cleavage sites. (PubMed id 15202778)^{1, 3} Schaecher K....Banik N.L. (2004)
IkBalpha promoter polymorphisms in patients with ankylosing spondylitis. (PubMed id 19363678)³ Hung Y.H....Yen J.H. (2009)
IkBalpha Promoter Polymorphisms in Patients with Primary Sjogren's Syndrome. (PubMed id 18600435)³ Ou T.T....Yen J.H. (2008)
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N- truncated protein and is associated with ectodermal dysplasia with immunodeficiency. (PubMed id 18412279)⁴ Lopez-Granados E.... Jain A. (2008)
Structural analysis, expression, and chromosomal localization of the mouse ikba gene. (PubMed id 10199915)¹ Rupec R.A....Messer G. (1999)
Regulation of IkB alpha phosphorylation by PKC- and Ca(2+)-dependent signal transduction pathways. (PubMed id 7594468)¹ Steffan N.M....Paya C.V. (1995)
Mutations in the IkBa gene in Hodgkin's disease suggest a tumour suppressor role for IkappaBalpha. (PubMed id 10340377)¹ Cabannes E....Hay R.T. (1999)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4792	HGNC: 7797	AceView: NFKBIA	Ensembl:ENSG00000100906	euGenes: HUgn4792
ECgene: NFKBIA	H-InvDB: NFKBIA

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

Name	Description
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/

Licensable Technologies for NFKBIA
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for NFKBIA:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for NFKBIA-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
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	Recombinant & Natural Proteins

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Antibodies & Assays for NFKBIA (IkappaB-alpha)

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	Antibodies (cleaved IKB alpha, IKB alpha)

Search OriGene for NFKBIA

Tocris compounds for NFKBIA

	Drugs/Proteins for NFKBIA
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for NFKBIA

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NFKBIA Gene

protein-coding GIFtS: 74

Aliases &
Descriptions
for NFKBIA

Summaries
for NFKBIA

Genomic Location
for NFKBIA

Proteins
for NFKBIA

Protein Domains/
Families
for NFKBIA

Gene Function
for NFKBIA

Pathways & Interactions
for NFKBIA

Drugs & Compounds
for NFKBIA

Transcripts
for NFKBIA

Expression
for NFKBIA

Orthologs
for NFKBIA

Paralogs
for NFKBIA

SNPs/Variants
for NFKBIA

Disorders & Mutations
for NFKBIA

Medical News
for NFKBIA

Publications
for NFKBIA

Search for NFKBIA

Genome Databases showing NFKBIA

Other Databases showing NFKBIA

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for NFKBIA

Services
for NFKBIA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

NFKBIA Gene

protein-coding GIFtS: 74

Aliases & Descriptionsfor NFKBIA

Summariesfor NFKBIA

Genomic Locationfor NFKBIA

Proteinsfor NFKBIA

Protein Domains/Familiesfor NFKBIA

Gene Functionfor NFKBIA

Pathways & Interactionsfor NFKBIA

Drugs & Compoundsfor NFKBIA

Transcriptsfor NFKBIA

Expression for NFKBIA

Orthologsfor NFKBIA

Paralogsfor NFKBIA

SNPs/Variantsfor NFKBIA

Disorders & Mutationsfor NFKBIA

Medical Newsfor NFKBIA

Publicationsfor NFKBIA

Search for NFKBIA

Genome Databases showing NFKBIA

Other Databases showing NFKBIA

Specialized Databases showing NFKBIA

Licensable Technologiesfor NFKBIA

Servicesfor NFKBIA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for NFKBIA

Summaries
for NFKBIA

Genomic Location
for NFKBIA

Proteins
for NFKBIA

Protein Domains/
Families
for NFKBIA

Gene Function
for NFKBIA

Pathways & Interactions
for NFKBIA

Drugs & Compounds
for NFKBIA

Transcripts
for NFKBIA

Expression
for NFKBIA

Orthologs
for NFKBIA

Paralogs
for NFKBIA

SNPs/Variants
for NFKBIA

Disorders & Mutations
for NFKBIA

Medical News
for NFKBIA

Publications
for NFKBIA

Licensable Technologies
for NFKBIA

Services
for NFKBIA