IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: IKBKEprovided by HGNC
Official Full Name: inhibitor of nuclear factor kappa B kinase subunit epsilonprovided by HGNC
Primary source: HGNC:HGNC:14552
See related: Ensembl:ENSG00000263528 MIM:605048; AllianceGenome:HGNC:14552
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IKKE; IKKI; IKK-E; IKK-i
Summary: IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]
Expression: Broad expression in lymph node (RPKM 9.0), appendix (RPKM 7.5) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (206470476..206496889)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (205734655..205761052)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (206643819..206670222)

Chromosome 1 - NC_000001.11 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

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring the Roles of Key Mediators IKBKE and HSPA1A in Alzheimer's Disease and Hepatocellular Carcinoma through Bioinformatics Analysis.
Title: Exploring the Roles of Key Mediators IKBKE and HSPA1A in Alzheimer's Disease and Hepatocellular Carcinoma through Bioinformatics Analysis.
IKBKE regulates angiogenesis by modulating VEGF expression and secretion in glioblastoma.
Title: IKBKE regulates angiogenesis by modulating VEGF expression and secretion in glioblastoma.
Dengue Virus 2 NS2B Targets MAVS and IKKepsilon to Evade the Antiviral Innate Immune Response.
Title: Dengue Virus 2 NS2B Targets MAVS and IKKε to Evade the Antiviral Innate Immune Response.
Promotion of Knee Cartilage Degradation by IkappaB Kinase epsilon in the Pathogenesis of Osteoarthritis in Human and Murine Models.
Title: Promotion of Knee Cartilage Degradation by IκB Kinase ε in the Pathogenesis of Osteoarthritis in Human and Murine Models.
Increased IKK protein stability ensures efficient type I interferon responses in conditions of TBK1 deficiency.
Title: Increased IKKϵ protein stability ensures efficient type I interferon responses in conditions of TBK1 deficiency.
IKBKE and BANK1 Polymorphisms and Clinical Characteristics in Chinese Women with Systemic Lupus Erythematosus.
Title: IKBKE and BANK1 Polymorphisms and Clinical Characteristics in Chinese Women with Systemic Lupus Erythematosus.
IKBKE phosphorylates and stabilizes Snail to promote breast cancer invasion and metastasis.
Title: IKBKE phosphorylates and stabilizes Snail to promote breast cancer invasion and metastasis.
Silencing IKBKE inhibits the migration and invasion of glioblastoma by promoting Snail1 degradation.
Title: Silencing IKBKE inhibits the migration and invasion of glioblastoma by promoting Snail1 degradation.
Akt phosphorylation regulated by IKKepsilon in response to low shear stress leads to endothelial inflammation via activating IRF3.
Title: Akt phosphorylation regulated by IKKε in response to low shear stress leads to endothelial inflammation via activating IRF3.
TBK1 and IKKepsilon act like an OFF switch to limit NLRP3 inflammasome pathway activation.
Title: TBK1 and IKKε act like an OFF switch to limit NLRP3 inflammasome pathway activation.

Submit: New GeneRIF Correction See all GeneRIFs (119)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120/CD4 interaction-induced NF-kappaB activation stimulates the hyperphosphorylation of IkappaB-alpha by IkappaB kinases (IKKs)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76223 (e-PCR)
- UniSTS:37383

RH70483 (e-PCR)
- UniSTS:46625

STS-AA022666 (e-PCR)
- UniSTS:29988

NoName (e-PCR)
- UniSTS:484279

Clone Names

KIAA0151, MGC125294, MGC125295, MGC125297

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables IkappaB kinase activity	IEA Inferred from Electronic Annotation more info
enables K48-linked polyubiquitin modification-dependent protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
NOT enables K63-linked polyubiquitin modification-dependent protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in I-kappaB phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in activation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to virus	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	NAS Non-traceable Author Statement more info	PubMed
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in interleukin-17-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA stabilization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of lipid storage	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type I interferon production	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of type I interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in response to interferon-beta	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in type I interferon-mediated signaling pathway	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of serine/threonine protein kinase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: inhibitor of nuclear factor kappa-B kinase subunit epsilon

Names: I-kappa-B kinase epsilon; IKK-epsilon; IKK-related kinase epsilon; inducible I kappa-B kinase; inducible IkappaB kinase; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon

NP_001180250.1

EC 2.7.11.10

NP_001180251.1

EC 2.7.11.10

NP_054721.1

EC 2.7.11.10

XP_005273413.1

EC 2.7.11.10

XP_047290974.1

EC 2.7.11.10

XP_047290976.1

EC 2.7.11.10

XP_054195701.1

EC 2.7.11.10

XP_054195702.1

EC 2.7.11.10

XP_054195703.1

EC 2.7.11.10

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_001193321.2 → NP_001180250.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform 3

See identical proteins and their annotated locations for NP_001180250.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate segment which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.

Source sequence(s)

BC107812, CB243308, D63485, DA999897

Consensus CDS

CCDS53464.1

UniProtKB/Swiss-Prot

Q14164

Related

ENSP00000462396.1, ENST00000584998.5

Conserved Domains (2) summary

cd12219
Location:212 → 298

UBL_TBK1_like; Ubiquitin-Like Domain Of Human Tbk1 and similar proteins

cl21453
Location:1 → 245

PKc_like; Protein Kinases, catalytic domain
NM_001193322.2 → NP_001180251.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region, which shifts the reading frame, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.

Source sequence(s)

BC107591, CB243308, D63485, DA999897, DB152295

Consensus CDS

CCDS73019.1

UniProtKB/TrEMBL

A0A075B7B4

Related

ENSP00000473833.1, ENST00000578328.6

Conserved Domains (3) summary

smart00220
Location:9 → 242

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd12219
Location:297 → 383

UBL_TBK1_like; Ubiquitin-Like Domain Of Human Tbk1 and similar proteins

cl21453
Location:15 → 330

PKc_like; Protein Kinases, catalytic domain
NM_014002.4 → NP_054721.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform 1

See identical proteins and their annotated locations for NP_054721.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longest transcript and it encodes the longest protein (isoform 1).

Source sequence(s)

BC105923, CB243308, D63485, DA990116, DB152295

Consensus CDS

CCDS30996.1

UniProtKB/Swiss-Prot

D3DT78, Q14164, Q3B754, Q3KR43, Q5JTS6

Related

ENSP00000464030.1, ENST00000581977.7

Conserved Domains (2) summary

cd12219
Location:297 → 383

UBL_TBK1_like; Ubiquitin-Like Domain Of Human Tbk1 and similar proteins

cl21453
Location:15 → 330

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

206470476..206496889

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005273356.3 → XP_005273413.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform X1

See identical proteins and their annotated locations for XP_005273413.1

UniProtKB/Swiss-Prot

D3DT78, Q14164, Q3B754, Q3KR43, Q5JTS6

Conserved Domains (2) summary

cd12219
Location:297 → 383

UBL_TBK1_like; Ubiquitin-Like Domain Of Human Tbk1 and similar proteins

cl21453
Location:15 → 330

PKc_like; Protein Kinases, catalytic domain
XM_047435018.1 → XP_047290974.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform X2
XM_047435020.1 → XP_047290976.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

205734655..205761052

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054339726.1 → XP_054195701.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform X1
XM_054339727.1 → XP_054195702.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform X2
XM_054339728.1 → XP_054195703.1 inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform X3