Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nfkbiaprovided by MGI
Official Full Name: nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alphaprovided by MGI
Primary source: MGI:MGI:104741
See related: Ensembl:ENSMUSG00000021025 AllianceGenome:MGI:104741
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nfkbi
Summary: Predicted to enable several functions, including NF-kappaB binding activity; nuclear localization sequence binding activity; and ubiquitin protein ligase binding activity. Acts upstream of or within several processes, including lipopolysaccharide-mediated signaling pathway; negative regulation of Notch signaling pathway; and pattern recognition receptor signaling pathway. Located in cytosol and nucleus. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; naris; and vibrissa follicle. Used to study Sjogren's syndrome and atopic dermatitis. Human ortholog(s) of this gene implicated in several diseases, including childhood-onset asthma; hematologic cancer (multiple); hepatitis B; hepatitis C; and lung disease (multiple). Orthologous to human NFKBIA (NFKB inhibitor alpha). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in thymus adult (RPKM 93.5), spleen adult (RPKM 74.5) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 24.0 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (55536194..55539432, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (55489409..55492647, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caspase 6 promotes innate immune activation by functional crosstalk between RIPK1-IkappaBalpha axis in liver inflammation.
Title: Caspase 6 promotes innate immune activation by functional crosstalk between RIPK1-IκBα axis in liver inflammation.
Histone demethylase KDM5B licenses macrophage-mediated inflammatory responses by repressing Nfkbia transcription.
Title: Histone demethylase KDM5B licenses macrophage-mediated inflammatory responses by repressing Nfkbia transcription.
In-Cell Chemical Crosslinking Identifies Hotspots for SQSTM-1/p62-IkappaBalpha Interaction That Underscore a Critical Role of p62 in Limiting NF-kappaB Activation Through IkappaBalpha Stabilization.
Title: In-Cell Chemical Crosslinking Identifies Hotspots for SQSTM-1/p62-IκBα Interaction That Underscore a Critical Role of p62 in Limiting NF-κB Activation Through IκBα Stabilization.
USP39 Regulates NF-kappaB-Mediated Inflammatory Responses through Deubiquitinating K48-Linked IkappaBalpha.
Title: USP39 Regulates NF-κB-Mediated Inflammatory Responses through Deubiquitinating K48-Linked IκBα.
HOXA5-Mediated Stabilization of IkappaBalpha Inhibits the NF-kappaB Pathway and Suppresses Malignant Transformation of Breast Epithelial Cells.
Title: HOXA5-Mediated Stabilization of IκBα Inhibits the NF-κB Pathway and Suppresses Malignant Transformation of Breast Epithelial Cells.
IkappaBalpha deficiency imposes a fetal phenotype to intestinal stem cells.
Title: IκBα deficiency imposes a fetal phenotype to intestinal stem cells.
Silencing of ATP2B1-AS1 contributes to protection against myocardial infarction in mouse via blocking NFKBIA-mediated NF-kappaB signalling pathway.
Title: Silencing of ATP2B1-AS1 contributes to protection against myocardial infarction in mouse via blocking NFKBIA-mediated NF-κB signalling pathway.
Astragalus polysaccharides alleviates LPS-induced inflammation via the NF-kappaB/MAPK signaling pathway.
Title: Astragalus polysaccharides alleviates LPS-induced inflammation via the NF-κB/MAPK signaling pathway.
Dominant-negative NFKBIA mutation promotes IL-1beta production causing hepatic disease with severe immunodeficiency.
Title: Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.
Deficiency in IkappaBalpha in the intestinal epithelium leads to spontaneous inflammation and mediates apoptosis in the gut.
Title: Deficiency in IκBα in the intestinal epithelium leads to spontaneous inflammation and mediates apoptosis in the gut.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (8) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC152658P1 (e-PCR)
- UniSTS:271238

NFKBIA (e-PCR)
- UniSTS:264121

AI462015 (e-PCR)
- UniSTS:160209

PMC116348P1 (e-PCR)
- UniSTS:270312

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables NF-kappaB binding	IBA Inferred from Biological aspect of Ancestor more info
enables NF-kappaB binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables heat shock protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular sequestering activity	ISO Inferred from Sequence Orthology more info
enables nuclear localization sequence binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein sequestering activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables transcription regulator inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to biotic stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular response to cytokine stimulus	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within cellular response to organic cyclic compound	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cellular response to tumor necrosis factor	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoplasmic sequestering of NF-kappaB	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoplasmic sequestering of NF-kappaB	ISO Inferred from Sequence Orthology more info
involved_in interleukin-1-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipopolysaccharide-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of lipid storage	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of macrophage derived foam cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of myeloid cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nucleotide-binding oligomerization domain containing 1 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription initiation by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to exogenous dsRNA	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to muramyl dipeptide	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to muscle stretch	IDA Inferred from Direct Assay more info	PubMed
involved_in toll-like receptor 4 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within toll-like receptor 4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in toll-like receptor 4 signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in tumor necrosis factor-mediated signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NF-kappa-B inhibitor alpha

Names: I(Kappa)B(alpha); I-kappa-B-alpha; I-kappaBalpha; ikB-alpha; ikappaBalpha; nuclear factor of kappa light chain gene enhancer in B-cells inhibitor, alpha; nuclear factor of kappa light polyp gene enhancer in B-cell 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010907.2 → NP_035037.2 NF-kappa-B inhibitor alpha

See identical proteins and their annotated locations for NP_035037.2

Status: VALIDATED

Source sequence(s)

AC158398, AI462015, BC046754, CF379853

Consensus CDS

CCDS25918.1

UniProtKB/Swiss-Prot

Q3U9W9, Q3UB40, Q80ZX5, Q9Z1E3

Related

ENSMUSP00000021413.8, ENSMUST00000021413.9

Conserved Domains (3) summary

cd00204
Location:105 → 237

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:143 → 180

ANK; ANK repeat [structural motif]

cl26073
Location:26 → 151

Ank_2; Ankyrin repeats (3 copies)