NFKBIZ NFKB inhibitor zeta [Homo sapiens (human)] - Gene

Summary

Official Symbol: NFKBIZprovided by HGNC
Official Full Name: NFKB inhibitor zetaprovided by HGNC
Primary source: HGNC:HGNC:29805
See related: Ensembl:ENSG00000144802 MIM:608004; AllianceGenome:HGNC:29805
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: IKBZ; INAP; MAIL; ikB-zeta; ikappaBzeta; IkappaB-zeta; I-kappa-B-zeta
Summary: This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in bone marrow (RPKM 120.3), urinary bladder (RPKM 31.0) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q12.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (101827990..101861022)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (104540783..104573840)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (101546834..101579866)

Chromosome 3 - NC_000003.12 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?

Assessing the association between common functional Nuclear Factor Kappa-b gene polymorphisms (NFKB1, NFKBIZ, NFKBIA) and Alzheimer s disease.
Title: Assessing the association between common functional Nuclear Factor Kappa-b gene polymorphisms (NFKB1, NFKBIZ, NFKBIA) and Alzheimer´s disease.
The Nuclear NF-kappaB Regulator IkappaBzeta: Updates on Its Molecular Functions and Pathophysiological Roles.
Title: The Nuclear NF-κB Regulator IκBζ: Updates on Its Molecular Functions and Pathophysiological Roles.
Structural and biochemical analyses of the nuclear IkappaBzeta protein in complex with the NF-kappaB p50 homodimer.
Title: Structural and biochemical analyses of the nuclear IκBζ protein in complex with the NF-κB p50 homodimer.
NFKBIZ regulates NFkappaB signaling pathway to mediate tumorigenesis and metastasis of hepatocellular carcinoma by direct interaction with TRIM16.
Title: NFKBIZ regulates NFκB signaling pathway to mediate tumorigenesis and metastasis of hepatocellular carcinoma by direct interaction with TRIM16.
IkappaBzeta is an essential mediator of immunity to oropharyngeal candidiasis.
Title: IκBζ is an essential mediator of immunity to oropharyngeal candidiasis.
Emerging role of IkappaBzeta in inflammation: Emphasis on psoriasis.
Title: Emerging role of IκBζ in inflammation: Emphasis on psoriasis.
PFN1 Prevents Psoriasis Pathogenesis through IkappaBzeta Regulation.
Title: PFN1 Prevents Psoriasis Pathogenesis through IκBζ Regulation.
Genetic variants in the NF-kappaB signaling pathway (NFKB1, NFKBIA, NFKBIZ) and risk of critical outcome among COVID-19 patients.
Title: Genetic variants in the NF-κB signaling pathway (NFKB1, NFKBIA, NFKBIZ) and risk of critical outcome among COVID-19 patients.
Upregulation of NFKBIZ affects bladder cancer progression via the PTEN/PI3K/Akt signaling pathway.
Title: Upregulation of NFKBIZ affects bladder cancer progression via the PTEN/PI3K/Akt signaling pathway.
IkBzeta is a Key Regulator of Tumour Necrosis Factor-a and Interleukin-17A-mediated Induction of Interleukin-36g in Human Keratinocytes.
Title: IkBζ is a Key Regulator of Tumour Necrosis Factor-a and Interleukin-17A-mediated Induction of Interleukin-36g in Human Keratinocytes.

Submit: New GeneRIF Correction See all GeneRIFs (45)

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

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ) in primary human brain microvascular endothelial cells	PubMed
	tat	HIV-1 Tat upregulates the expression of nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77168 (e-PCR)
- UniSTS:76296

SHGC-34272 (e-PCR)
- UniSTS:63516

D3S2778E (e-PCR)
- UniSTS:150818

SHGC-36176 (e-PCR)
- UniSTS:6196

RH79096 (e-PCR)
- UniSTS:23633

SHGC-147762 (e-PCR)
- UniSTS:175995

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables POU domain binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in B cell receptor apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in T cell mediated immunity	IEA Inferred from Electronic Annotation more info
involved_in T cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in T-helper 1 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in T-helper 17 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-17	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in chronic inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in defense response to Gram-negative bacterium	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in establishment of skin barrier	IEA Inferred from Electronic Annotation more info
involved_in execution phase of apoptosis	IEA Inferred from Electronic Annotation more info
involved_in homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response to wounding	IEA Inferred from Electronic Annotation more info
involved_in isotype switching	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte activation	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in mRNA transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in plasma cell differentiation	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 positive regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to Gram-positive bacterium	IEA Inferred from Electronic Annotation more info
involved_in response to cisplatin	IEA Inferred from Electronic Annotation more info
involved_in response to folic acid	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in spleen development	IEA Inferred from Electronic Annotation more info
involved_in toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in transcription preinitiation complex assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
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 zeta

Names: IL-1 inducible nuclear ankyrin-repeat protein; molecule possessing ankyrin repeats induced by lipopolysaccharide; nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta

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_001005474.3 → NP_001005474.1 NF-kappa-B inhibitor zeta isoform b

See identical proteins and their annotated locations for NP_001005474.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains alternative 5' non-coding exons compared to variant 1, and initiates translation from an in-frame downstream AUG, resulting in a shorter isoform (b) compared to isoform a.

Source sequence(s)

AF548362, AW004900, BC014587, BX492097, DA541852

Consensus CDS

CCDS43123.1

UniProtKB/TrEMBL

C9JZ23

Related

ENSP00000377618.2, ENST00000394054.6

Conserved Domains (4) summary

cd00204
Location:407 → 573

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 ...

pfam12796
Location:348 → 436

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:498 → 556

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:451 → 509

ANK; ANK repeat [structural motif]
NM_031419.4 → NP_113607.1 NF-kappa-B inhibitor zeta isoform a

See identical proteins and their annotated locations for NP_113607.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

BC014587, BC060800

Consensus CDS

CCDS2946.1

UniProtKB/Swiss-Prot

B3KNR2, D3DN54, Q8IUL4, Q8NAZ8, Q9BYH8

UniProtKB/TrEMBL

C9JZ23

Related

ENSP00000325663.5, ENST00000326172.9

Conserved Domains (4) summary

cd00204
Location:507 → 673

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 ...

pfam12796
Location:448 → 536

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:598 → 656

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:551 → 609

ANK; ANK repeat [structural motif]