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IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [ Homo sapiens (human) ]

Gene ID: 8517, updated on 9-Aug-2020

Summary

Official Symbol
IKBKGprovided by HGNC
Official Full Name
inhibitor of nuclear factor kappa B kinase regulatory subunit gammaprovided by HGNC
Primary source
HGNC:HGNC:5961
See related
Ensembl:ENSG00000269335 MIM:300248
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
IP; IP1; IP2; FIP3; IKKG; IPD2; NEMO; FIP-3; Fip3p; IMD33; AMCBX1; EDAID1; IKKAP1; ZC2HC9; IKK-gamma
Summary
This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in spleen (RPKM 11.5), appendix (RPKM 8.9) and 25 other tissues See more
Orthologs

Genomic context

See IKBKG in Genome Data Viewer
Location:
Xq28
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154541238..154565046)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153769419..153796804)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 697, pseudogene Neighboring gene FAM3 metabolism regulating signaling molecule A Neighboring gene glucose-6-phosphate dehydrogenase Neighboring gene G6PD and IKBKG intron CAGE-defined low expression enhancer Neighboring gene origin of replication in promoter of G6PD Neighboring gene IKBKG recombination region Neighboring gene IKBKG downstream recombination region Neighboring gene family with sequence similarity 223 member A

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env The HIV-1 gp41 cytoplasmic domain-induced NFkappaB activation requires TAK1, RelA, and NEMO proteins PubMed

Go to the HIV-1, Human Interaction Database

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
K63-linked polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
linear polyubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
peroxisome proliferator activated receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
transferrin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
I-kappaB kinase/NF-kappaB signaling TAS
Traceable Author Statement
more info
PubMed 
JNK cascade TAS
Traceable Author Statement
more info
 
MyD88-independent toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
T cell receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
T cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
TRIF-dependent toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of MAPK activity TAS
Traceable Author Statement
more info
 
anoikis ISS
Inferred from Sequence or Structural Similarity
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of vesicle localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response TAS
Traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
PubMed 
interleukin-1-mediated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of neuron death TAS
Traceable Author Statement
more info
PubMed 
nucleotide-binding oligomerization domain containing signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling TAS
Traceable Author Statement
more info
 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of macroautophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
response to virus TAS
Traceable Author Statement
more info
PubMed 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
stress-activated MAPK cascade TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
IkappaB kinase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
IkappaB kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
IkappaB kinase complex TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular IDA
Inferred from Direct Assay
more info
 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin ligase complex IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
NF-kappa-B essential modulator
Names
I-kappa-B kinase subunit gamma
NF-kappa-B essential modifier
ikB kinase subunit gamma
ikB kinase-associated protein 1
incontinentia pigmenti
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
inhibitor of nuclear factor kappa B kinase subunit gamma

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.

Genomic

  1. NG_009896.1 RefSeqGene

    Range
    5001..27803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_70

mRNA and Protein(s)

  1. NM_001099856.6NP_001093326.2  NF-kappa-B essential modulator isoform b

    See identical proteins and their annotated locations for NP_001093326.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate promoter and initiates translation from an alternate in-frame upstream start codon compared to variant 1. The resulting isoform (b) has a longer N-terminus compared to isoform a.
    Source sequence(s)
    AC244090
    Consensus CDS
    CCDS48196.1
    UniProtKB/Swiss-Prot
    Q9Y6K9
    Related
    ENSP00000483825.1, ENST00000618670.4
    Conserved Domains (2) summary
    pfam11577
    Location:112179
    NEMO; NF-kappa-B essential modulator NEMO
    pfam16516
    Location:327412
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
  2. NM_001099857.5NP_001093327.1  NF-kappa-B essential modulator isoform a

    See identical proteins and their annotated locations for NP_001093327.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 3, and 7, encodes isoform a.
    Source sequence(s)
    AC244090
    Consensus CDS
    CCDS14757.1
    UniProtKB/Swiss-Prot
    Q9Y6K9
    Related
    ENSP00000471166.1, ENST00000594239.5
    Conserved Domains (3) summary
    pfam11577
    Location:44111
    NEMO; NF-kappa-B essential modulator NEMO
    pfam16516
    Location:259344
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
    cl25732
    Location:39296
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001145255.4NP_001138727.1  NF-kappa-B essential modulator isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two in-frame exons in the central coding region compared to variant 1. The resulting isoform (c) lacks two internal protein segments compared to isoform a.
    Source sequence(s)
    AC244090
    Consensus CDS
    CCDS48197.1
    UniProtKB/Swiss-Prot
    Q9Y6K9
    Related
    ENSP00000478616.1, ENST00000611176.4
    Conserved Domains (2) summary
    pfam11577
    Location:44111
    NEMO; NF-kappa-B essential modulator NEMO
    cl15254
    Location:203245
    UBAN; polyubiquitin binding domain of NEMO and related proteins
  4. NM_001321396.3NP_001308325.1  NF-kappa-B essential modulator isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), as well as variants 3, 5, and 7, encodes isoform a.
    Source sequence(s)
    AC244090
    Consensus CDS
    CCDS14757.1
    UniProtKB/Swiss-Prot
    Q9Y6K9
    Conserved Domains (3) summary
    pfam11577
    Location:44111
    NEMO; NF-kappa-B essential modulator NEMO
    pfam16516
    Location:259344
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
    cl25732
    Location:39296
    SMC_N; RecF/RecN/SMC N terminal domain
  5. NM_001321397.3NP_001308326.1  NF-kappa-B essential modulator isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 8, encodes isoform d.
    Source sequence(s)
    AC244090
    Consensus CDS
    CCDS83513.1
    UniProtKB/Swiss-Prot
    Q9Y6K9
    UniProtKB/TrEMBL
    A0A087X1B1
    Related
    ENSP00000484023.1, ENST00000617207.4
    Conserved Domains (2) summary
    pfam11577
    Location:44111
    NEMO; NF-kappa-B essential modulator NEMO
    pfam16516
    Location:258343
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
  6. NM_001377312.1NP_001364241.1  NF-kappa-B essential modulator isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 3, and 5, encodes isoform a.
    Source sequence(s)
    AC244090
  7. NM_001377313.1NP_001364242.1  NF-kappa-B essential modulator isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 6, encodes isoform d.
    Source sequence(s)
    AC244090
  8. NM_001377314.1NP_001364243.1  NF-kappa-B essential modulator isoform e

    Status: REVIEWED

    Source sequence(s)
    AC244090
  9. NM_001377315.1NP_001364244.1  NF-kappa-B essential modulator isoform f

    Status: REVIEWED

    Source sequence(s)
    AC244090
  10. NM_003639.4NP_003630.1  NF-kappa-B essential modulator isoform a

    See identical proteins and their annotated locations for NP_003630.1

    Status: REVIEWED

    Source sequence(s)
    AF062089, AF261086, BC000299
    Consensus CDS
    CCDS14757.1
    UniProtKB/Swiss-Prot
    Q9Y6K9
    Related
    ENSP00000479662.1, ENST00000611071.4
    Conserved Domains (3) summary
    pfam11577
    Location:44111
    NEMO; NF-kappa-B essential modulator NEMO
    pfam16516
    Location:259344
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
    cl25732
    Location:39296
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. NR_165197.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC244090

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    154541238..154565046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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