NFRKB nuclear factor related to kappaB binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: NFRKBprovided by HGNC
Official Full Name: nuclear factor related to kappaB binding proteinprovided by HGNC
Primary source: HGNC:HGNC:7802
See related: Ensembl:ENSG00000170322 MIM:164013; AllianceGenome:HGNC:7802
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: INO80G
Summary: Enables protease binding activity. Involved in several processes, including chromatin remodeling; regulation of chromosome organization; and regulation of nucleobase-containing compound metabolic process. Located in Ino80 complex and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 11.1), ovary (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (129863636..129895578, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (129899341..129931605, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (129733531..129765473, complement)

Chromosome 11 - NC_000011.10 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?

A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.
Title: A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings.
The biological function of metazoan-specific subunit nuclear factor related to kappaB binding protein of INO80 complex.
Title: The biological function of metazoan-specific subunit nuclear factor related to kappaB binding protein of INO80 complex.
Nuclear Factor Related to KappaB Binding Protein (NFRKB) Is a Telomere-Associated Protein and Involved in Liver Cancer Development.
Title: Nuclear Factor Related to KappaB Binding Protein (NFRKB) Is a Telomere-Associated Protein and Involved in Liver Cancer Development.
LncRNA DRAIC inhibits proliferation and metastasis of gastric cancer cells through interfering with NFRKB deubiquitination mediated by UCHL5.
Title: LncRNA DRAIC inhibits proliferation and metastasis of gastric cancer cells through interfering with NFRKB deubiquitination mediated by UCHL5.
Data show that DEUBAD domain in RPN13 (ADRM1) activates ubiquitin thioesterase L5 (UCH-L5), and the related DEUBAD domain in INO80G (NFRKB) inhibits UCH-L5.
Title: Mechanism of UCH-L5 activation and inhibition by DEUBAD domains in RPN13 and INO80G.
The structure of a novel helical domain of NFRKB was determined to 2.18 A resolution.
Title: Structure of a novel winged-helix like domain from human NFRKB protein.
NFRKB may be involved in the disorders of transcriptional regulation commonly observed in minimal change nephrotic syndrome relapse.
Title: Upregulation of nuclear factor-related kappa B suggests a disorder of transcriptional regulation in minimal change nephrotic syndrome.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut.

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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:197564 (e-PCR)
- UniSTS:155945

A004Y37 (e-PCR)
- UniSTS:38705

D11S445 (e-PCR)
- UniSTS:148126

D11S4699 (e-PCR)
- UniSTS:47539

RH102660 (e-PCR)
- UniSTS:96994

RH79933 (e-PCR)
- UniSTS:88036

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables protease binding	IBA Inferred from Biological aspect of Ancestor more info
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance in response to DNA damage	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA repair	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA strand elongation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of chromosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of embryonic development	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Ino80 complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nuclear factor related to kappa-B-binding protein

Names: DNA-binding protein R kappa B; INO80 complex subunit G

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_001143835.2 → NP_001137307.1 nuclear factor related to kappa-B-binding protein isoform 1

See identical proteins and their annotated locations for NP_001137307.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).

Source sequence(s)

AP003327

Consensus CDS

CCDS44770.1

UniProtKB/Swiss-Prot

Q12869, Q15312, Q6P4R8, Q9H048

Related

ENSP00000506850.1, ENST00000682444.1

Conserved Domains (1) summary

pfam14465
Location:392 → 476

NFRKB_winged; NFRKB Winged Helix-like
NM_006165.4 → NP_006156.2 nuclear factor related to kappa-B-binding protein isoform 2

See identical proteins and their annotated locations for NP_006156.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter, differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) has a longer N-terminus and includes an additional internal segment, compared to isoform 1.

Source sequence(s)

AL512730, AP003327, BC063280, BM975529, X80878

Consensus CDS

CCDS8483.1

Related

ENSP00000436926.1, ENST00000524794.5

Conserved Domains (1) summary

pfam14465
Location:417 → 501

NFRKB_winged; NFRKB Winged Helix-like