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NFKBIE NFKB inhibitor epsilon [ Homo sapiens (human) ]

Gene ID: 4794, updated on 3-Oct-2020

Summary

Official Symbol
NFKBIEprovided by HGNC
Official Full Name
NFKB inhibitor epsilonprovided by HGNC
Primary source
HGNC:HGNC:7799
See related
Ensembl:ENSG00000146232 MIM:604548
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IKBE
Summary
The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]
Expression
Broad expression in bone marrow (RPKM 9.4), spleen (RPKM 9.3) and 25 other tissues See more
Orthologs

Genomic context

See NFKBIE in Genome Data Viewer
Location:
6p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (44258166..44265551, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44225903..44233525, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene heat shock protein 90 alpha family class B member 1 Neighboring gene solute carrier family 35 member B2 Neighboring gene microRNA 4647 Neighboring gene transmembrane protein 151B Neighboring gene t-complex-associated-testis-expressed 1 Neighboring gene alanyl-tRNA synthetase 2, mitochondrial

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
D-serine transport IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic sequestering of transcription factor TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
NF-kappa-B inhibitor epsilon
Names
I-kappa-B-epsilon
NF-kappa-BIE
ikB-E
ikB-epsilon
ikappaBepsilon
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon

NCBI Reference Sequences (RefSeq)

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)

  1. NM_004556.3NP_004547.3  NF-kappa-B inhibitor epsilon

    Status: REVIEWED

    Source sequence(s)
    AL139392, BC063609, U91616
    Consensus CDS
    CCDS34463.1
    Related
    ENSP00000480216.1, ENST00000619360.6
    Conserved Domains (3) summary
    COG0666
    Location:182328
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:231261
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:149209
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    44258166..44265551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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