NFE2L1 NFE2 like bZIP transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NFE2L1provided by HGNC
Official Full Name: NFE2 like bZIP transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:7781
See related: Ensembl:ENSG00000082641 MIM:163260; AllianceGenome:HGNC:7781
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: NRF1; NRF-1; TCF11; LCR-F1
Summary: This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]
Annotation information: Note: NRF1 (Gene ID: 4899) and NFE2L1 (Gene ID: 4779) share the NRF1 symbol/alias in common. NRF1 is a widely used alternative name for nuclear factor, erythroid 2 like 1 (NFE2L1), which can be confused with the official symbol for nuclear respiratory factor 1 (NRF1). [05 Jul 2018]
Expression: Ubiquitous expression in heart (RPKM 133.9), kidney (RPKM 94.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (48048359..48061545)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (48910172..48923361)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (46125721..46138907)

Chromosome 17 - NC_000017.11 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 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?

The multifaceted functions of NFE2L1 in metabolism and associated disorders.
Title: The multifaceted functions of NFE2L1 in metabolism and associated disorders.
Transcription factor Nrf1 regulates proteotoxic stress-induced autophagy.
Title: Transcription factor Nrf1 regulates proteotoxic stress-induced autophagy.
Loss of Nrf1 rather than Nrf2 leads to inflammatory accumulation of lipids and reactive oxygen species in human hepatoma cells, which is alleviated by 2-bromopalmitate.
Title: Loss of Nrf1 rather than Nrf2 leads to inflammatory accumulation of lipids and reactive oxygen species in human hepatoma cells, which is alleviated by 2-bromopalmitate.
Nrf1 is not a direct target gene of SREBP1, albeit both are integrated into the rapamycin-responsive regulatory network in human hepatoma cells.
Title: Nrf1 is not a direct target gene of SREBP1, albeit both are integrated into the rapamycin-responsive regulatory network in human hepatoma cells.
NFE2L1 restrains ferroptosis by transcriptionally regulating HJURP and participates in the progress of oral squamous cell carcinoma.
Title: NFE2L1 restrains ferroptosis by transcriptionally regulating HJURP and participates in the progress of oral squamous cell carcinoma.
Evaluation of the NRF1-proteasome axis as a therapeutic target in breast cancer.
Title: Evaluation of the NRF1-proteasome axis as a therapeutic target in breast cancer.
Transcription Factor NFE2L1 Decreases in Glomerulonephropathies after Podocyte Damage.
Title: Transcription Factor NFE2L1 Decreases in Glomerulonephropathies after Podocyte Damage.
The transcription factor NRF1 (NFE2L1) activates aggrephagy by inducing p62 and GABARAPL1 after proteasome inhibition to maintain proteostasis.
Title: The transcription factor NRF1 (NFE2L1) activates aggrephagy by inducing p62 and GABARAPL1 after proteasome inhibition to maintain proteostasis.
Unravelling the role of NFE2L1 in stress responses and related diseases.
Title: Unravelling the role of NFE2L1 in stress responses and related diseases.
The molecular network of the proteasome machinery inhibition response is orchestrated by HSP70, revealing vulnerabilities in cancer cells.
Title: The molecular network of the proteasome machinery inhibition response is orchestrated by HSP70, revealing vulnerabilities in cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (58)

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
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 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

Nfe2l1 (e-PCR), detects polymorphism
- UniSTS:463421

GDB:451565 (e-PCR)
- UniSTS:157312

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell redox homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular response to cholesterol	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in heme biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in lipid homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of odontoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
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	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endoplasmic reticulum membrane sensor NFE2L1

Names: NF-E2-related factor 1; NFE2-related factor 1; TCF-11; locus control region-factor 1; nuclear factor erythroid 2-related factor 1; nuclear factor, erythroid 2 like 1; nuclear factor, erythroid derived 2, like 1; protein NRF1, p120 form; transcription factor 11 (basic leucine zipper type); transcription factor HBZ17; transcription factor LCR-F1

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_001330261.2 → NP_001317190.1 endoplasmic reticulum membrane sensor NFE2L1 isoform 2

Status: VALIDATED

Source sequence(s)

AC004477, BM971272

Consensus CDS

CCDS82151.1

UniProtKB/TrEMBL

J9JIE5, Q8NF22

Conserved Domains (1) summary

cd14720
Location:640 → 707

bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
NM_001330262.2 → NP_001317191.1 endoplasmic reticulum membrane sensor NFE2L1 isoform 3

Status: VALIDATED

Source sequence(s)

AC004477, BM971272, DB097304, L24123

Consensus CDS

CCDS82150.1

UniProtKB/TrEMBL

Q8NF22

Related

ENSP00000350072.5, ENST00000357480.9

Conserved Domains (1) summary

cd14720
Location:621 → 688

bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
NM_003204.3 → NP_003195.1 endoplasmic reticulum membrane sensor NFE2L1 isoform 1

See identical proteins and their annotated locations for NP_003195.1

Status: VALIDATED

Source sequence(s)

AC004477, AK090459, BM983473, DA230932, DB097304, U08853

Consensus CDS

CCDS11524.1

UniProtKB/Swiss-Prot

D3DTU3, D3DTU5, Q12877, Q14494, Q96FN6

UniProtKB/TrEMBL

Q8NF22

Related

ENSP00000354855.3, ENST00000362042.8

Conserved Domains (1) summary

cd14720
Location:651 → 718

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

48048359..48061545

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436148.1 → XP_047292104.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X4
XM_005257410.5 → XP_005257467.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X1

See identical proteins and their annotated locations for XP_005257467.1

UniProtKB/Swiss-Prot

D3DTU3, D3DTU5, Q12877, Q14494, Q96FN6

UniProtKB/TrEMBL

Q8NF22

Conserved Domains (1) summary

cd14720
Location:651 → 718

bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
XM_005257412.5 → XP_005257469.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X3

See identical proteins and their annotated locations for XP_005257469.1

UniProtKB/TrEMBL

Q8NF22

Conserved Domains (1) summary

cd14720
Location:621 → 688

bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
XM_005257411.5 → XP_005257468.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X2

See identical proteins and their annotated locations for XP_005257468.1

UniProtKB/TrEMBL

J9JIE5, Q8NF22

Related

ENSP00000355190.3, ENST00000361665.7

Conserved Domains (1) summary

cd14720
Location:640 → 707

bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
XM_005257415.5 → XP_005257472.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X4

See identical proteins and their annotated locations for XP_005257472.1

UniProtKB/TrEMBL

Q8NF22

Conserved Domains (1) summary

cd14720
Location:610 → 677

bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

48910172..48923361

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316271.1 → XP_054172246.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X4
XM_054316267.1 → XP_054172242.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X1

UniProtKB/Swiss-Prot

D3DTU3, D3DTU5, Q12877, Q14494, Q96FN6
XM_054316269.1 → XP_054172244.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X3
XM_054316268.1 → XP_054172243.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X2

UniProtKB/TrEMBL

J9JIE5
XM_054316270.1 → XP_054172245.1 endoplasmic reticulum membrane sensor NFE2L1 isoform X4