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NFKBID NFKB inhibitor delta [ Homo sapiens (human) ]

Gene ID: 84807, updated on 7-Apr-2024

Summary

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Official Symbol
NFKBIDprovided by HGNC
Official Full Name
NFKB inhibitor deltaprovided by HGNC
Primary source
HGNC:HGNC:15671
See related
Ensembl:ENSG00000167604 MIM:618887; AllianceGenome:HGNC:15671
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
IkBNS; TA-NFKBH; IkappaBNS
Summary
Predicted to enable NF-kappaB binding activity. Predicted to be involved in T cell receptor signaling pathway; positive regulation of T-helper 17 cell differentiation; and regulation of gene expression. Predicted to act upstream of or within several processes, including negative regulation of NF-kappaB transcription factor activity; negative regulation of T cell differentiation in thymus; and positive regulation of thymocyte apoptotic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bone marrow (RPKM 9.7), appendix (RPKM 2.8) and 19 other tissues See more
Orthologs
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Genomic context

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See NFKBID in Genome Data Viewer
Location:
19q13.12
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35887952..35902303, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38433711..38448068, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36378854..36393205, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10541 Neighboring gene amyloid beta precursor like protein 1 Neighboring gene uncharacterized LOC124904705 Neighboring gene RNA, 7SL, cytoplasmic 402, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36389157-36389729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:36389730-36390301 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:36390314-36390870 and GRCh37_chr19:36390871-36391426 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:36398209-36398362 Neighboring gene hematopoietic cell signal transducer Neighboring gene transmembrane immune signaling adaptor TYROBP

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A Hypermorphic Nfkbid Allele Contributes to Impaired Thymic Deletion of Autoreactive Diabetogenic CD8(+) T Cells in NOD Mice. Presa M, et al. J Immunol, 2018 Oct 1. PMID 30127089, Free PMC Article
  2. A translational silencing function of MCPIP1/Regnase-1 specified by the target site context. Behrens G, et al. Nucleic Acids Res, 2018 May 4. PMID 29471506, Free PMC Article
  3. p100/IκBδ sequesters and inhibits NF-κB through kappaBsome formation. Tao Z, et al. Proc Natl Acad Sci U S A, 2014 Nov 11. PMID 25349408, Free PMC Article
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC11314, MGC149503

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of T-helper 17 cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
NF-kappa-B inhibitor delta
Names
I-kappa-B-delta
T-cell activation NFKB-like protein
ikB-delta
ikappaBdelta
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta

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)

  1. NM_001321831.2 → NP_001308760.1  NF-kappa-B inhibitor delta isoform 2

    Status: VALIDATED

    Source sequence(s)
    AD000864, CD743210
    Conserved Domains (4) summary
    cd00204
    Location:94 → 242
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00023
    Location:258 → 293
    Ank; Ankyrin repeat
    pfam12796
    Location:104 → 213
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:63 → 97
    ANK; ANK repeat [structural motif]

  2. NM_001365705.1 → NP_001352634.1  NF-kappa-B inhibitor delta isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4), formerly known as isoform 1.
    Source sequence(s)
    AD000864
    Consensus CDS
    CCDS42552.1
    UniProtKB/Swiss-Prot
    Q8NI38, Q8NI39, Q9BRG9
    Related
    ENSP00000380109.1, ENST00000396901.5
    Conserved Domains (3) summary
    PHA03095
    Location:46 → 287
    PHA03095; ankyrin-like protein; Provisional
    sd00045
    Location:48 → 82
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:183 → 278
    Ank_2; Ankyrin repeats (3 copies)

  3. NM_001365706.3 → NP_001352635.2  NF-kappa-B inhibitor delta isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) encodes isoform 5 (formerly known as isoform 4) and uses a non-AUG (CUG) translation initiation codon.
    Source sequence(s)
    AD000864

  4. NM_032721.3 → NP_116110.2  NF-kappa-B inhibitor delta isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes isoform 3.
    Source sequence(s)
    AD000864, AF385433
    Consensus CDS
    CCDS92601.1
    Related
    ENSP00000475712.2, ENST00000606253.5
    Conserved Domains (4) summary
    cd00204
    Location:231 → 379
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:304 → 355
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:334 → 430
    Ank_2; Ankyrin repeats (3 copies)
    cl26464
    Location:70 → 178
    Atrophin-1; Atrophin-1 family

  5. NM_139239.5 → NP_640332.2  NF-kappa-B inhibitor delta isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1 and uses a non-AUG (CUG) translation initiation codon.
    Source sequence(s)
    AD000864
    UniProtKB/TrEMBL
    A0A286YF31
    Related
    ENSP00000493265.2, ENST00000641389.3

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    35887952..35902303 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    38433711..38448068 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NI38.1 GenPept UniProtKB/Swiss-Prot:Q8NI38

Gene LinkOut

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