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

Summary

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

Location:: 7p15.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (26152198..26187137)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (26287764..26322815)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (26191818..26226757)

Chromosome 7 - NC_000007.14 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?

Identification roles of NFE2L3 in digestive system cancers.
Title: Identification roles of NFE2L3 in digestive system cancers.
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.
NRF3 suppresses squamous carcinogenesis, involving the unfolded protein response regulator HSPA5.
Title: NRF3 suppresses squamous carcinogenesis, involving the unfolded protein response regulator HSPA5.
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.
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.
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.
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.
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.
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.
NRF3-POMP-20S Proteasome Assembly Axis Promotes Cancer Development via Ubiquitin-Independent Proteolysis of p53 and Retinoblastoma Protein.
Title: NRF3-POMP-20S Proteasome Assembly Axis Promotes Cancer Development via Ubiquitin-Independent Proteolysis of p53 and Retinoblastoma Protein.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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 EBI GWAS CatalogPubMed
Common variants at 1p36 are associated with superior frontal gyrus volume. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2259 (e-PCR)
- UniSTS:153612

RH70778 (e-PCR)
- UniSTS:89110

G49241 (e-PCR)
- UniSTS:108997

RH76062 (e-PCR)
- UniSTS:83708

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
part_of 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)

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