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    NFE2L3 NFE2 like bZIP transcription factor 3 [ Homo sapiens (human) ]

    Gene ID: 9603, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NFE2L3provided by HGNC
    Official Full Name
    NFE2 like bZIP transcription factor 3provided by HGNC
    Primary source
    HGNC:HGNC:7783
    See related
    Ensembl:ENSG00000050344 MIM:604135; AllianceGenome:HGNC:7783
    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
    NRF3
    Summary
    This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]
    Expression
    Broad expression in placenta (RPKM 30.4), appendix (RPKM 7.6) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NFE2L3 in Genome Data Viewer
    Location:
    7p15.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (26152198..26187137)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (26287764..26322815)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (26191818..26226757)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25776 Neighboring gene microRNA 148a Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:26050032-26050705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25777 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:26140958-26141128 Neighboring gene uncharacterized LOC105375198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25778 Neighboring gene MPRA-validated peak6446 silencer Neighboring gene MPRA-validated peak6447 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:26187424-26188096 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:26188097-26188769 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:26191778-26192572 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr7:26192573-26193366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:26197976-26198476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:26198477-26198977 Neighboring gene Sharpr-MPRA regulatory region 12991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25783 Neighboring gene Sharpr-MPRA regulatory region 4449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25785 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:26227891-26228415 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:26238808-26239781 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:26239782-26240754 Neighboring gene heterogeneous nuclear ribonucleoprotein A2/B1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18035 Neighboring gene chromobox 3

    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. Identification roles of NFE2L3 in digestive system cancers. Li F, et al. J Cancer Res Clin Oncol, 2024 Mar 22. PMID 38514488, Free PMC Article
    2. Endoplasmic reticulum association and N-linked glycosylation of the human Nrf3 transcription factor. Nouhi Z, et al. FEBS Lett, 2007 Nov 27. PMID 17976382
    3. NFE2L3 (NRF3): the Cinderella of the Cap'n'Collar transcription factors. Chevillard G, et al. Cell Mol Life Sci, 2011 Oct. PMID 21687990, Free PMC Article
    4. Functional and placental expression analysis of the human NRF3 transcription factor. Chénais B, et al. Mol Endocrinol, 2005 Jan. PMID 15388789
    5. Multiple regulatory mechanisms of the biological function of NRF3 (NFE2L3) control cancer cell proliferation. Chowdhury AMMA, et al. Sci Rep, 2017 Oct 2. PMID 28970512, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NRF3 suppresses the malignant progression of TNBC by promoting M1 polarization of macrophages via ROS/HMGB1 axis.
      Title: NRF3 suppresses the malignant progression of TNBC by promoting M1 polarization of macrophages via ROS/HMGB1 axis.
    2. Identification roles of NFE2L3 in digestive system cancers.
      Title: Identification roles of NFE2L3 in digestive system cancers.
    3. Hypomethylation-Mediated Upregulation of NFE2L3 Promotes Malignant Phenotypes of Clear Cell Renal Cell Carcinoma Cells.
      Title: Hypomethylation-Mediated Upregulation of NFE2L3 Promotes Malignant Phenotypes of Clear Cell Renal Cell Carcinoma Cells.
    4. NRF3 suppresses squamous carcinogenesis, involving the unfolded protein response regulator HSPA5.
      Title: NRF3 suppresses squamous carcinogenesis, involving the unfolded protein response regulator HSPA5.
    5. Transcription factor NFE2L3 promotes the proliferation of esophageal squamous cell carcinoma cells and causes radiotherapy resistance by regulating IL-6.
      Title: Transcription factor NFE2L3 promotes the proliferation of esophageal squamous cell carcinoma cells and causes radiotherapy resistance by regulating IL-6.
    6. NFE2L3 as a Potential Functional Gene Regulating Immune Microenvironment in Human Kidney Cancer.
      Title: NFE2L3 as a Potential Functional Gene Regulating Immune Microenvironment in Human Kidney Cancer.
    7. NFE2L3 promotes tumor progression and predicts a poor prognosis of bladder cancer.
      Title: NFE2L3 promotes tumor progression and predicts a poor prognosis of bladder cancer.
    8. Elevated expression of NFE2L3 promotes the development of gastric cancer through epithelial-mesenchymal transformation.
      Title: Elevated expression of NFE2L3 promotes the development of gastric cancer through epithelial-mesenchymal transformation.
    9. NFE2L3 Controls Colon Cancer Cell Growth through Regulation of DUX4, a CDK1 Inhibitor.
      Title: NFE2L3 Controls Colon Cancer Cell Growth through Regulation of DUX4, a CDK1 Inhibitor.
    10. NFE2L1 and NFE2L3 Complementarily Maintain Basal Proteasome Activity in Cancer Cells through CPEB3-Mediated Translational Repression.
      Title: NFE2L1 and NFE2L3 Complementarily Maintain Basal Proteasome Activity in Cancer Cells through CPEB3-Mediated Translational Repression.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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
    A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
    EBI GWAS Catalog
    Common variants at 1p36 are associated with superior frontal gyrus volume.
    EBI GWAS Catalog
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    EBI GWAS Catalog
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in integrated stress response signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nuclear factor erythroid 2-related factor 3
    Names
    NF-E2-related factor 3
    NFE2-related factor 3
    nuclear factor, erythroid 2 like 3
    nuclear factor, erythroid derived 2, like 3
    nuclear factor-erythroid 2 p45-related factor 3

    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_004289.7 → NP_004280.5  nuclear factor erythroid 2-related factor 3

      See identical proteins and their annotated locations for NP_004280.5

      Status: REVIEWED

      Source sequence(s)
      AA603252, AC004520, AF134891, BC056142, BX396198
      Consensus CDS
      CCDS5396.1
      UniProtKB/Swiss-Prot
      Q6NUS0, Q7Z498, Q86UJ4, Q86VR5, Q9UQA4, Q9Y4A8
      UniProtKB/TrEMBL
      A4D178
      Related
      ENSP00000056233.3, ENST00000056233.4
      Conserved Domains (1) summary
      cd14720
      Location:575 → 642
      bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      26152198..26187137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      26287764..26322815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4A8.1 GenPept UniProtKB/Swiss-Prot:Q9Y4A8

    Gene LinkOut

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

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