NFKBID NFKB inhibitor delta [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000019.10 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
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?

The unique ability of p100/IkappaBdelta to stably interact with all NF-kappaB subunits by forming kappaBsomes demonstrates its importance in sequestering NF-kappaB subunits and releasing them as dictated by specific stimuli for developmental programs.
Title: p100/IκBδ sequesters and inhibits NF-κB through kappaBsome formation.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D11S2560 (e-PCR)
- UniSTS:37928

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

L17809 (e-PCR)
- UniSTS:39087

RH98854 (e-PCR)
- UniSTS:91842

NoName (e-PCR)
- UniSTS:489964

L17770 (e-PCR)
- UniSTS:70383

RH118714 (e-PCR)
- UniSTS:109300

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)

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]
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)
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
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
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