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

Gene ID: 8517, updated on 5-Dec-2021

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
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Genomic context

See IKBKG in Genome Data Viewer
Location:
Xq28
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154541238..154565046)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153769453..153793261)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene FAM3 metabolism regulating signaling molecule A Neighboring gene Sharpr-MPRA regulatory region 11639 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?

Phenotypes

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome
MedGen: CN120488 GeneReviews: Not available
Compare labs
Ectodermal dysplasia and immunodeficiency 1
MedGen: C1846006 OMIM: 300291 GeneReviews: Not available
Compare labs
Familial atypical mycobacteriosis, type 1, X-linked
MedGen: C1970879 OMIM: 300636 GeneReviews: Not available
Compare labs
Incontinentia pigmenti syndrome
MedGen: C0021171 OMIM: 308300 GeneReviews: Incontinentia Pigmenti
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-11-10)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-11-10)

ClinGen Genome Curation PagePubMed

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

Process Evidence Code Pubs
involved_in I-kappaB kinase/NF-kappaB signaling TAS
Traceable Author Statement
more info
PubMed 
involved_in T cell receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in anoikis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in apoptotic process TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of vesicle localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in inflammatory response TAS
Traceable Author Statement
more info
PubMed 
involved_in innate immune response TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of neuron death TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of macroautophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to virus TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of IkappaB kinase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of IkappaB kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of IkappaB kinase complex TAS
Traceable Author Statement
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
part_of ubiquitin ligase complex IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
NF-kappa-B essential modulator
Names
14.7K (adenovirus E3 protein) interacting protein 3
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)

NEW Try the new Transcript table

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, ENST00000594239.6
    Conserved Domains (4) summary
    TIGR02168
    Location:87321
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam11577
    Location:44110
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:393418
    zf_C2H2_10; C2H2 type zinc-finger
    cl15254
    Location:258344
    UBAN; polyubiquitin binding domain of NEMO and related proteins
  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 (4) summary
    TIGR02168
    Location:87321
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam11577
    Location:44110
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:393418
    zf_C2H2_10; C2H2 type zinc-finger
    cl15254
    Location:258344
    UBAN; polyubiquitin binding domain of NEMO and related proteins
  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 (4) summary
    TIGR02169
    Location:49362
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam11577
    Location:44110
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:392417
    zf_C2H2_10; C2H2 type zinc-finger
    cl15254
    Location:257343
    UBAN; polyubiquitin binding domain of NEMO and related proteins
  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
    Conserved Domains (4) summary
    TIGR02168
    Location:87321
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam11577
    Location:44110
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:393418
    zf_C2H2_10; C2H2 type zinc-finger
    cl15254
    Location:258344
    UBAN; polyubiquitin binding domain of NEMO and related proteins
  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
    Conserved Domains (4) summary
    TIGR02169
    Location:49362
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam11577
    Location:44110
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:392417
    zf_C2H2_10; C2H2 type zinc-finger
    cl15254
    Location:257343
    UBAN; polyubiquitin binding domain of NEMO and related proteins
  8. NM_001377314.1NP_001364243.1  NF-kappa-B essential modulator isoform e

    Status: REVIEWED

    Source sequence(s)
    AC244090
    Conserved Domains (4) summary
    cd09803
    Location:206292
    UBAN; polyubiquitin binding domain of NEMO and related proteins
    pfam11577
    Location:44110
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:341366
    zf_C2H2_10; C2H2 type zinc-finger
    pfam12128
    Location:44185
    DUF3584; Protein of unknown function (DUF3584)
  9. NM_001377315.1NP_001364244.1  NF-kappa-B essential modulator isoform f

    Status: REVIEWED

    Source sequence(s)
    AC244090
    Conserved Domains (3) summary
    cd09803
    Location:135221
    UBAN; polyubiquitin binding domain of NEMO and related proteins
    pfam11577
    Location:44110
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:270295
    zf_C2H2_10; C2H2 type zinc-finger
  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 (4) summary
    TIGR02168
    Location:87321
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam11577
    Location:44110
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:393418
    zf_C2H2_10; C2H2 type zinc-finger
    cl15254
    Location:258344
    UBAN; polyubiquitin binding domain of NEMO and related proteins

RNA

  1. NR_165197.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC244090

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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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