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NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_020529 Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

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Gene Symbol NFKBIA
Entrez Gene ID 4792
Full Name nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
Synonyms IKBA, MAD-3, NFKBI
General protein information
Preferred Names
NF-kappa-B inhibitor alpha
Names
NF-kappa-B inhibitor alpha
ikB-alpha
IkappaBalpha
I-kappa-B-alpha
nuclear factor of kappa light chain gene enhancer in B-cells
major histocompatibility complex enhancer-binding protein MAD3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q13

Summary 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].
Disorder

MIM: 164008

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency,

mRNA Protein Product Sequence Price Select
NM_020529, 168693660 NP_065390, 10092619 NF-kappa-B inhibitor alpha ORF Sequence $269.00
KEGG
hsa04662B cell receptor signaling pathway
hsa04210Apoptosis
hsa04660T cell receptor signaling pathway
hsa05215Prostate cancer
hsa04620Toll-like receptor signaling pathway
hsa04920Adipocytokine signaling pathway
hsa05222Small cell lung cancer
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa05200Pathways in cancer
hsa05131Shigellosis
hsa05220Chronic myeloid leukemia
hsa04062Chemokine signaling pathway
hsa04722Neurotrophin signaling pathway
hsa04623Cytosolic DNA-sensing pathway
hsa04622RIG-I-like receptor signaling pathway
hsa04621NOD-like receptor signaling pathway
hsa05142Chagas disease (American trypanosomiasis)
hsa05140Leishmaniasis
hsa05145Toxoplasmosis
hsa05160Hepatitis C
hsa05166HTLV-I infection
hsa05162Measles
hsa04380Osteoclast differentiation
hsa05164Influenza A
hsa05168Herpes simplex infection
hsa05134Legionellosis
hsa05161Hepatitis B
hsa04064NF-kappa B signaling pathway
hsa05169Epstein-Barr virus infection
hsa05203Viral carcinogenesis
hsa04668TNF signaling pathway
WikiPathways
WP127IL-5 Signaling Pathway
WP254Apoptosis
WP1772Apoptosis Modulation and Signaling
WP1433NOD pathway
WP61Delta-Notch Signaling Pathway
WP75Toll-like receptor signaling pathway
WP69TCR Signaling Pathway
WP23B Cell Receptor Signaling Pathway
WP231TNF-alpha/NF-kB Signaling Pathway
WP2324AGE/RAGE pathway
WP2374Oncostatin M Signaling Pathway
WP2377Integrated Pancreatic Cancer Pathway
WP2380BDNF signaling pathway
WP2036TWEAK Signaling Pathway
WP2037Prolactin Signaling Pathway
WP2018RANKL/RANK Signaling Pathway
WP2203TSLP Signaling Pathway
WP1449Regulation of toll-like receptor signaling pathway
WP2355Corticotropin-releasing hormone
Pathway Interaction Database
lysophospholipid_pathwayLPA receptor mediated events
aurora_a_pathwayAurora A signaling
hivnefpathwayHIV-1 Nef: Negative effector of Fas and TNF-alpha
hdac_classi_pathwaySignaling events mediated by HDAC Class I
nfkappabatypicalpathwayAtypical NF-kappaB pathway
avb3_opn_pathwayOsteopontin-mediated events
il23pathwayIL23-mediated signaling events
ceramide_pathwayCeramide signaling pathway
nfkappabcanonicalpathwayCanonical NF-kappaB pathway
bcr_5pathwayBCR signaling pathway
cd40_pathwayCD40/CD40L signaling
Reactome
REACT_6966Toll-Like Receptors Cascades
REACT_9027Toll Like Receptor 10 (TLR10) Cascade
REACT_6783Toll Like Receptor 3 (TLR3) Cascade
REACT_6900Immune System
REACT_6802Innate Immune System
REACT_6809MyD88-independent cascade
REACT_8005Toll Like Receptor TLR1:TLR2 Cascade
REACT_9061Toll Like Receptor 5 (TLR5) Cascade
REACT_6890Activated TLR4 signalling
REACT_6788MyD88:Mal cascade initiated on plasma membrane
REACT_9047Toll Like Receptor 9 (TLR9) Cascade
REACT_6894Toll Like Receptor 4 (TLR4) Cascade
REACT_7980Toll Like Receptor 2 (TLR2) Cascade
REACT_8006Toll Like Receptor TLR6:TLR2 Cascade
REACT_11061Signalling by NGF
REACT_12555Downstream TCR signaling
REACT_13776p75 NTR receptor-mediated signalling
REACT_13537p75NTR signals via NF-kB
REACT_9020Toll Like Receptor 7/8 (TLR7/8) Cascade
REACT_12526TCR signaling
REACT_13696NF-kB is activated and signals survival
REACT_21281TAK1 activates NFkB by phosphorylation and activation of IKKs complex
REACT_27215MyD88 cascade initiated on plasma membrane
REACT_75774Adaptive Immune System
REACT_24969TRAF6 mediated NF-kB activation
REACT_25222MyD88 dependent cascade initiated on endosome
REACT_25359RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
REACT_25024TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
REACT_25281TRIF-mediated TLR3/TLR4 signaling
REACT_111102Signal Transduction
REACT_118773Signaling by the B Cell Receptor (BCR)
REACT_118638Downstream signaling events of B Cell Receptor (BCR)
REACT_118656Activation of NF-kappaB in B cells
REACT_118823Cytosolic sensors of pathogen-associated DNA
REACT_118764ZBP1(DAI) mediated induction of type I IFNs
REACT_118563RIP-mediated NFkB activation via ZBP1
REACT_163936Fc epsilon receptor (FCERI) signaling
REACT_163994FCERI mediated NF-kB activation
Homo sapiens (human)NFKBIANP_065390.1
Pan troglodytes (chimpanzee)NFKBIAXP_522823.2
Macaca mulatta (Rhesus monkey)NFKBIAXP_001087842.1
Canis lupus familiaris (dog)NFKBIAXP_537413.3
Bos taurus (cattle)NFKBIANP_001039333.1
Mus musculus (house mouse)NfkbiaNP_035037.2
Rattus norvegicus (Norway rat)NfkbiaNP_001099190.2
Gallus gallus (chicken)NFKBIANP_001001472.2
Danio rerio (zebrafish)nfkbiabNP_955923.1
Danio rerio (zebrafish)nfkbiaaNP_998349.1
Drosophila melanogaster (fruit fly)cactNP_001260496.1
Xenopus (Silurana) tropicalis (western clawed frog)nfkbiaNP_001004851.1
Process
IDNameEvidence
GO:0000060protein import into nucleus, translocationIEA
GO:0002224toll-like receptor signaling pathwayTAS
GO:0002755MyD88-dependent toll-like receptor signaling pathwayTAS
GO:0002756MyD88-independent toll-like receptor signaling pathwayTAS
GO:0006915apoptotic processTAS
GO:0007253cytoplasmic sequestering of NF-kappaBIMP
GO:0010745negative regulation of macrophage derived foam cell differentiationIMP
GO:0010875positive regulation of cholesterol effluxIMP
GO:0010888negative regulation of lipid storageIMP
GO:0016032viral processIEA
GO:0031663lipopolysaccharide-mediated signaling pathwayIEA
GO:0032088negative regulation of NF-kappaB transcription factor activityIDA
GO:0032270positive regulation of cellular protein metabolic processIMP
GO:0032481positive regulation of type I interferon productionTAS
GO:0032495response to muramyl dipeptideIEA
GO:0034134toll-like receptor 2 signaling pathwayTAS
GO:0034138toll-like receptor 3 signaling pathwayTAS
GO:0034142toll-like receptor 4 signaling pathwayTAS
GO:0034146toll-like receptor 5 signaling pathwayTAS
GO:0034162toll-like receptor 9 signaling pathwayTAS
GO:0034166toll-like receptor 10 signaling pathwayTAS
GO:0035666TRIF-dependent toll-like receptor signaling pathwayTAS
GO:0038095Fc-epsilon receptor signaling pathwayTAS
GO:0038123toll-like receptor TLR1:TLR2 signaling pathwayTAS
GO:0038124toll-like receptor TLR6:TLR2 signaling pathwayTAS
GO:0042127regulation of cell proliferationIEA
GO:0042345regulation of NF-kappaB import into nucleusNAS
GO:0042994cytoplasmic sequestering of transcription factorIDA
GO:0043066negative regulation of apoptotic processTAS
GO:0043330response to exogenous dsRNAIEA
GO:0043392negative regulation of DNA bindingNAS
GO:0045087innate immune responseTAS
GO:0045638negative regulation of myeloid cell differentiationIEA
GO:0045746negative regulation of Notch signaling pathwayIEA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIMP
GO:0048011neurotrophin TRK receptor signaling pathwayTAS
GO:0050852T cell receptor signaling pathwayTAS
GO:0051092positive regulation of NF-kappaB transcription factor activityTAS
GO:0070417cellular response to coldNAS
GO:0070427nucleotide-binding oligomerization domain containing 1 signaling pathwayIEA
GO:0070431nucleotide-binding oligomerization domain containing 2 signaling pathwayIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005829cytosolTAS
GO:0005886plasma membraneIDA
GO:0033256I-kappaB/NF-kappaB complexTAS
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingTAS
GO:0008139nuclear localization sequence bindingIPI
GO:0019899enzyme bindingIPI
GO:0031072heat shock protein bindingIEA
GO:0031625ubiquitin protein ligase bindingIPI
GO:0032403protein complex bindingIEA
GO:0042802identical protein bindingIPI
GO:0051059NF-kappaB bindingIDA
GO:0051059NF-kappaB bindingIPI
GeneCards NFKBIA
PDB 1IKN, 1NFI
UniProt P25963
Vega OTTHUMG00000140220
MIM 164008
Ensembl ENSG00000100906
HGNC 7797
HPRD 01235

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the NFKBIA gene?

The NFKBIA gene provides instructions for making one piece (the alpha subunit) of the IKK protein complex, which is a group of related proteins that regulates the activity of nuclear factor-kappa-B. Nuclear factor-kappa-B is a protein complex that binds to DNA and controls the activity of other genes. When it is turned off (inactive), nuclear factor-kappa-B is attached (bound) to the IKK complex. In response to certain signals, the IKK complex turns on (activates) nuclear factor-kappa-B and releases it.

The NFKBIA protein helps keep nuclear factor-kappa-B bound in the IKK complex. When the NFKBIA protein receives a signal that nuclear factor-kappa-B is to be released, it breaks down so the factor can be turned on (activated) and released from the complex. Once the active factor is released, it moves into the nucleus and binds to DNA. Nuclear factor-kappa-B regulates the activity of multiple genes, including genes that control the body's immune responses and inflammatory reactions. Nuclear factor-kappa-B also appears to play a role in the signaling pathway that is critical for the formation of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, it protects the cell from certain signals that would otherwise cause it to self-destruct (undergo apoptosis).

Interactant

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