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

    Gene ID: 8517, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:5961
    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; SAIDX; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IKBKG in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154541238..154565046)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152777621..152801428)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153769453..153793261)

    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 uncharacterized LOC124905229 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153743824-153744447 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153744448-153745070 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153745046-153745202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30065 Neighboring gene Sharpr-MPRA regulatory region 11639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153762224-153762818 Neighboring gene glucose-6-phosphate dehydrogenase Neighboring gene G6PD and IKBKG intron CAGE-defined low expression enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153774097-153774640 Neighboring gene origin of replication in promoter of G6PD Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30067 Neighboring gene IKBKG recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153792215-153792716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153792717-153793216 Neighboring gene IKBKG downstream recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153798001-153798800 Neighboring gene family with sequence similarity 223 member A Neighboring gene activating transcription factor 4 pseudogene 2

    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: C5680330 GeneReviews: Not available
    Compare labs
    Autoinflammatory disease, X-linked
    MedGen: C5676885 OMIM: 301081 GeneReviews: Not available
    Compare labs
    Ectodermal dysplasia and immunodeficiency 1
    MedGen: C1846008 OMIM: 300291 GeneReviews: Not available
    Compare labs
    Immunodeficiency 33
    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    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 canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in canonical NF-kappaB signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in defense response to bacterium IDA
    Inferred from Direct Assay
    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 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 canonical NF-kappaB signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within 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 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 positive regulation of ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    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
     
    part_of IkappaB kinase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of IkappaB kinase complex IPI
    Inferred from Physical Interaction
    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
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol 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
     
    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/TrEMBL
      A0A087WUW6
      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
      Q7LBY6, Q7Z7F1, Q9Y6K9
      UniProtKB/TrEMBL
      A0A087WUW6
      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/TrEMBL
      A0A8I5KQX5
      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
      Q7LBY6, Q7Z7F1, Q9Y6K9
      UniProtKB/TrEMBL
      A0A087WUW6
      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/TrEMBL
      A0A087X0G7, 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
      Consensus CDS
      CCDS14757.1
      UniProtKB/Swiss-Prot
      Q7LBY6, Q7Z7F1, Q9Y6K9
      UniProtKB/TrEMBL
      A0A087WUW6
      Related
      ENSP00000394934.2, ENST00000440286.6
      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
    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
      Consensus CDS
      CCDS83513.1
      UniProtKB/TrEMBL
      A0A087X0G7, A0A087X1B1
      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
      UniProtKB/TrEMBL
      A0A8I5KQX5
      Related
      ENSP00000508630.1, ENST00000689906.1
      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
      UniProtKB/TrEMBL
      A0A8I5KQX5
      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
      Q7LBY6, Q7Z7F1, Q9Y6K9
      UniProtKB/TrEMBL
      A0A087WUW6
      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: 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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152777621..152801428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)