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

Gene ID: 4798, updated on 23-Mar-2024

Summary

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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. Predicted to be involved in DNA recombination and DNA repair. Located in nucleoplasm. Colocalizes with Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 11.1), ovary (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

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See NFRKB in Genome Data Viewer
Location:
11q24.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (129863636..129895578, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (129899341..129931605, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (129733531..129765473, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902793 Neighboring gene Sharpr-MPRA regulatory region 8939 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:129673393-129673893 Neighboring gene transmembrane protein 45B Neighboring gene TMEM45B-NFRKB intergenic CAGE-defined mid-level expression enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:129739277-129739466 Neighboring gene Sharpr-MPRA regulatory region 15352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4067 Neighboring gene PR/SET domain 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4068 Neighboring gene NANOG hESC enhancer GRCh37_chr11:129795831-129796332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:129806281-129806994 Neighboring gene MPRA-validated peak1509 silencer Neighboring gene Sharpr-MPRA regulatory region 3666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:129841453-129842000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4073 Neighboring gene CRISPRi-validated cis-regulatory element chr11.6035 Neighboring gene PRDM10 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4074 Neighboring gene elongin B pseudogene 2

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. The biological function of metazoan-specific subunit nuclear factor related to kappaB binding protein of INO80 complex. Peng Q, et al. Int J Biol Macromol, 2022 Apr 1. PMID 35093437
  2. Nuclear Factor Related to KappaB Binding Protein (NFRKB) Is a Telomere-Associated Protein and Involved in Liver Cancer Development. Peng Q, et al. DNA Cell Biol, 2021 Oct. PMID 34591601
  3. Structure of a novel winged-helix like domain from human NFRKB protein. Kumar A, et al. PLoS One, 2012. PMID 22984442, Free PMC Article
  4. Upregulation of nuclear factor-related kappa B suggests a disorder of transcriptional regulation in minimal change nephrotic syndrome. Audard V, et al. PLoS One, 2012. PMID 22291976, Free PMC Article
  5. Cloning of R kappa B, a novel DNA-binding protein that recognizes the interleukin-2 receptor alpha chain kappa B site. Adams BS, et al. New Biol, 1991 Nov. PMID 1777480

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut.
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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp547B2013

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)

  1. 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

  2. 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

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    129863636..129895578 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    129899341..129931605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P4R8.2 GenPept UniProtKB/Swiss-Prot:Q6P4R8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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