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

    Gene ID: 4798, updated on 28-Oct-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. 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, Oct 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

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    See NFRKB in Genome Data Viewer
    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_000011.10Genomic 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 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 large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings. Fusaro M, et al. Clin Immunol, 2024 Apr. PMID 38423196
    2. Structure of a novel winged-helix like domain from human NFRKB protein. Kumar A, et al. PLoS One, 2012. PMID 22984442, Free PMC Article
    3. 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
    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. 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

    See all (83) 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_2024_08

    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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