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

Summary

Official Symbol: Nfkbieprovided by MGI
Official Full Name: nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilonprovided by MGI
Primary source: MGI:MGI:1194908
See related: Ensembl:ENSMUSG00000023947 AllianceGenome:MGI:1194908
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: IKBE; IkB-E; ikB-epsilon; NF-kappa-BIE; I-kappa-B-epsilon
Summary: Predicted to be involved in D-serine transmembrane transport. Predicted to act upstream of or within negative regulation of DNA-templated transcription. Predicted to be located in cytosol; nuclear lumen; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. Is expressed in several structures, including central nervous system; dorsal root ganglion; eye; genitourinary system; and thymus. Orthologous to human NFKBIE (NFKB inhibitor epsilon). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in spleen adult (RPKM 27.7), thymus adult (RPKM 23.0) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B3; 17 22.58 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (45866626..45874095)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (45555700..45563169)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NFKBIE mutations are selected by the tumor microenvironment and contribute to immune escape in chronic lymphocytic leukemia.
Title: NFKBIE mutations are selected by the tumor microenvironment and contribute to immune escape in chronic lymphocytic leukemia.
REGgamma regulates NFkappaB activity by specifically degrading IkBepsilon to regulate inflammation in testicular Leydig cells.
Title: Proteasome activator REGγ promotes inflammation in Leydig cells via IkBε signaling.
The basic residues Lys-717 and Lys-719 in the C-terminal region of ANK7 contribute to IkappaBzeta binding to the Lcn2 promoter, probably via interaction with the cytosine-rich element required for Lcn2 activation; glutamate substitution for both lysines results in a loss of transcriptionally active complex formation without affecting direct contact of IkappaBzeta with p50.
Title: The Nuclear Protein IκBζ Forms a Transcriptionally Active Complex with Nuclear Factor-κB (NF-κB) p50 and the Lcn2 Promoter via the N- and C-terminal Ankyrin Repeat Motifs.
The data imply that regulation of these c-Rel-dependent lymphoid responses is a non-redundant function of IkappaBepsilon.
Title: Inhibitor of kappa B epsilon (IκBε) is a non-redundant regulator of c-Rel-dependent gene expression in murine T and B cells.
In vivo degradation rate constants were measured for NF-kappaB-bound & -unbound IkappaB. Models suggest differential degradation rates of free & bound IkappaB may be a new cross-regulation mechanism imparting functional robustness to the signaling module.
Title: A homeostatic model of IkappaB metabolism to control constitutive NF-kappaB activity.
IkappaBepsilon deficiency in mice leads to neonatal death, elevated kappaB binding activity, overexpression of NF-kappaB target genes, and disruption of lymphocyte production.
Title: IkappaBalpha/IkappaBepsilon deficiency reveals that a critical NF-kappaB dosage is required for lymphocyte survival.
An important role is proposed for I kappa B epsilon in the differential regulation of nuclear NF-kappa B activity in stimulated B cells.
Title: Reductions in I kappa B epsilon and changes in NF-kappa B activity during B lymphocyte differentiation.
Neither IkappaBalpha nor IkappaBepsilon deficiency had major effects on natural killer cell generation while their combined absence led to NF-kappaB hyperactivation.
Title: Combined deficiency in IkappaBalpha and IkappaBepsilon reveals a critical window of NF-kappaB activity in natural killer cell differentiation.
temporal control of NF-kappaB activation by the coordinated degradation and synthesis of IkappaB proteins
Title: The IkappaB-NF-kappaB signaling module: temporal control and selective gene activation.

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Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in D-serine transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of DNA-templated transcription	RCA inferred from Reviewed Computational Analysis more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NF-kappa-B inhibitor epsilon

Names: ikappaBepsilon

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_001304956.1 → NP_001291885.1 NF-kappa-B inhibitor epsilon isoform 2

See identical proteins and their annotated locations for NP_001291885.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which has a longer and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC163677, AK008843, AK011965

Consensus CDS

CCDS89104.1

UniProtKB/TrEMBL

A0A3B2WAY2, Q3U9Q0

Related

ENSMUSP00000156580.2, ENSMUST00000233929.2

Conserved Domains (3) summary

cd00204
Location:152 → 320

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 ...

pfam12796
Location:238 → 326

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:234 → 264

ANK; ANK repeat [structural motif]
NM_008690.4 → NP_032716.2 NF-kappa-B inhibitor epsilon isoform 1

See identical proteins and their annotated locations for NP_032716.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).

Source sequence(s)

AC163677, AK008843, AK151450

Consensus CDS

CCDS28811.1

UniProtKB/Swiss-Prot

O54910, Q3U686, Q9CZZ9, Q9D7U3

UniProtKB/TrEMBL

Q3U9Q0

Related

ENSMUSP00000024742.8, ENSMUST00000024742.9

Conserved Domains (3) summary

cd00204
Location:152 → 320

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 ...

pfam12796
Location:238 → 326

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:234 → 264

ANK; ANK repeat [structural motif]