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Aliases for NFE2L1 Gene

Aliases for NFE2L1 Gene

  • Nuclear Factor, Erythroid 2 Like 1 2 3 5
  • Nuclear Factor, Erythroid Derived 2, Like 1 3 4
  • Locus Control Region-Factor 1 3 4
  • Transcription Factor LCR-F1 3 4
  • Transcription Factor HBZ17 3 4
  • NF-E2-Related Factor 1 3 4
  • NFE2-Related Factor 1 3 4
  • TCF-11 3 4
  • TCF11 3 4
  • NRF1 3 4
  • Transcription Factor 11 (Basic Leucine Zipper Type) 3
  • Nuclear Factor (Erythroid-Derived 2)-Like 1 2
  • Nuclear Factor Erythroid 2-Related Factor 1 3
  • Nuclear Factor, Erythroid 2-Like 1 2
  • Transcription Factor 11 4
  • LCR-F1 3
  • HBZ17 4

External Ids for NFE2L1 Gene

Previous HGNC Symbols for NFE2L1 Gene

  • TCF11

Previous GeneCards Identifiers for NFE2L1 Gene

  • GC17P045831
  • GC17P048606
  • GC17P046467
  • GC17P046600
  • GC17P043480
  • GC17P046125
  • GC17P041494

Summaries for NFE2L1 Gene

Entrez Gene Summary for NFE2L1 Gene

  • 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]

GeneCards Summary for NFE2L1 Gene

NFE2L1 (Nuclear Factor, Erythroid 2 Like 1) is a Protein Coding gene. Among its related pathways are PAK Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription cofactor activity. An important paralog of this gene is NFE2L3.

UniProtKB/Swiss-Prot for NFE2L1 Gene

  • Activates erythroid-specific, globin gene expression.

Gene Wiki entry for NFE2L1 Gene

Additional gene information for NFE2L1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFE2L1 Gene

Genomics for NFE2L1 Gene

GeneHancer (GH) Regulatory Elements for NFE2L1 Gene

Promoters and enhancers for NFE2L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I048044 Promoter/Enhancer 2.5 VISTA EPDnew Ensembl ENCODE dbSUPER 550.8 +2.8 2783 13 CLOCK DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC NFE2L1 SP2 SNX11 ENSG00000266601 KPNB1 MRPL45P2 CBX1 UBE2Z ENSG00000253347 EFCAB13
GH17I047970 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -77.0 -77002 2.1 CLOCK ZFP64 YBX1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC SSRP1 CDK5RAP3 SP2 ENSG00000266601 KPNB1 SCRN2 MRPL45P2 PNPO EFCAB13 PRR15L SP2-AS1
GH17I048106 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.9 +59.6 59628 2.6 HDGF PKNOX1 SMAD1 ARID4B SIN3A YBX1 ZBTB7B YY1 POLR2B E2F8 SNX11 COPZ2 ENSG00000266601 KPNB1 EFCAB13 NFE2L1 MIR152 ENSG00000263412 ENSG00000263766 SP2
GH17I048023 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 -23.0 -23001 4.6 HDGF PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SP2 ENSG00000253347 CBX1 MRPL45P2 EFCAB13 ENSG00000266601 SNX11 CDK5RAP3 COPZ2 SKAP1
GH17I047944 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 9.8 -95.3 -95293 17 HDGF PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 PRR15L GC17P047952 SCRN2 MRPL45P2 CDK5RAP3 SP2 COPZ2 PNPO EFCAB13 ENSG00000264701
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NFE2L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NFE2L1 gene promoter:

Genomic Locations for NFE2L1 Gene

Genomic Locations for NFE2L1 Gene
chr17:48,048,324-48,061,545
(GRCh38/hg38)
Size:
13,222 bases
Orientation:
Plus strand
chr17:46,125,686-46,138,907
(GRCh37/hg19)

Genomic View for NFE2L1 Gene

Genes around NFE2L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFE2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFE2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFE2L1 Gene

Proteins for NFE2L1 Gene

  • Protein details for NFE2L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14494-NF2L1_HUMAN
    Recommended name:
    Nuclear factor erythroid 2-related factor 1
    Protein Accession:
    Q14494
    Secondary Accessions:
    • D3DTU3
    • D3DTU5
    • Q12877
    • Q96FN6

    Protein attributes for NFE2L1 Gene

    Size:
    772 amino acids
    Molecular mass:
    84704 Da
    Quaternary structure:
    • Interacts with KEAP1.

    Alternative splice isoforms for NFE2L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFE2L1 Gene

Post-translational modifications for NFE2L1 Gene

No data available for DME Specific Peptides for NFE2L1 Gene

Domains & Families for NFE2L1 Gene

Gene Families for NFE2L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Transcription factors

Protein Domains for NFE2L1 Gene

Suggested Antigen Peptide Sequences for NFE2L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14494

UniProtKB/Swiss-Prot:

NF2L1_HUMAN :
  • Belongs to the bZIP family. CNC subfamily.
Family:
  • Belongs to the bZIP family. CNC subfamily.
genes like me logo Genes that share domains with NFE2L1: view

Function for NFE2L1 Gene

Molecular function for NFE2L1 Gene

GENATLAS Biochemistry:
nuclear factor,erythroid derived 2-like 1,Capncollar (CNC) family of transcription factor,expressed in many tissues
UniProtKB/Swiss-Prot Function:
Activates erythroid-specific, globin gene expression.

Phenotypes From GWAS Catalog for NFE2L1 Gene

Gene Ontology (GO) - Molecular Function for NFE2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding IEA --
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with NFE2L1: view
genes like me logo Genes that share phenotypes with NFE2L1: view

Animal Models for NFE2L1 Gene

MGI Knock Outs for NFE2L1:

Animal Model Products

miRNA for NFE2L1 Gene

miRTarBase miRNAs that target NFE2L1

Transcription Factor Targets for NFE2L1 Gene

Selected GeneGlobe predicted Target genes for NFE2L1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for NFE2L1 Gene

Localization for NFE2L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFE2L1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFE2L1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
cytosol 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFE2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with NFE2L1: view

Pathways & Interactions for NFE2L1 Gene

genes like me logo Genes that share pathways with NFE2L1: view

SIGNOR curated interactions for NFE2L1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NFE2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006366 transcription by RNA polymerase II TAS 9826775
GO:0006783 heme biosynthetic process TAS 9501099
genes like me logo Genes that share ontologies with NFE2L1: view

Drugs & Compounds for NFE2L1 Gene

(4) Drugs for NFE2L1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lauryl Dimethylamine-N-Oxide Experimental Pharma Target 0
heme Pharma Agonist 0
genes like me logo Genes that share compounds with NFE2L1: view

Transcripts for NFE2L1 Gene

Unigene Clusters for NFE2L1 Gene

Nuclear factor (erythroid-derived 2)-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFE2L1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - -
SP4: - -
SP5: -
SP6: - - - - -
SP7: - - -
SP8: - - - - - -
SP9: - - - - - - -
SP10: -
SP11: - -

Relevant External Links for NFE2L1 Gene

GeneLoc Exon Structure for
NFE2L1
ECgene alternative splicing isoforms for
NFE2L1

Expression for NFE2L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NFE2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NFE2L1 Gene

This gene is overexpressed in Muscle - Skeletal (x8.9).

Protein differential expression in normal tissues from HIPED for NFE2L1 Gene

This gene is overexpressed in Liver, secretome (31.0), Liver (20.4), and Pancreatic juice (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NFE2L1 Gene



Protein tissue co-expression partners for NFE2L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NFE2L1 Gene:

NFE2L1

SOURCE GeneReport for Unigene cluster for NFE2L1 Gene:

Hs.514284

Evidence on tissue expression from TISSUES for NFE2L1 Gene

  • Nervous system(4.7)
  • Eye(4.6)
  • Lung(3.6)
  • Pancreas(3.2)
  • Muscle(3.1)
  • Heart(2.9)
  • Intestine(2.3)
  • Kidney(2.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with NFE2L1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NFE2L1 Gene

Orthologs for NFE2L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NFE2L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFE2L1 33 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia NFE2L1 33 34
  • 92.14 (n)
cow
(Bos Taurus)
Mammalia NFE2L1 33 34
  • 90.58 (n)
mouse
(Mus musculus)
Mammalia Nfe2l1 33 16 34
  • 90.5 (n)
rat
(Rattus norvegicus)
Mammalia Nfe2l1 33
  • 89.97 (n)
oppossum
(Monodelphis domestica)
Mammalia NFE2L1 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFE2L1 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFE2L1 33 34
  • 78.7 (n)
lizard
(Anolis carolinensis)
Reptilia NFE2L1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfe2l1 33
  • 65 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68992 33
zebrafish
(Danio rerio)
Actinopterygii nfe2l1b 33 34
  • 64.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta cnc 35 34
  • 52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
OneToMany
Species where no ortholog for NFE2L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NFE2L1 Gene

ENSEMBL:
Gene Tree for NFE2L1 (if available)
TreeFam:
Gene Tree for NFE2L1 (if available)

Paralogs for NFE2L1 Gene

Paralogs for NFE2L1 Gene

genes like me logo Genes that share paralogs with NFE2L1: view

Variants for NFE2L1 Gene

Sequence variations from dbSNP and Humsavar for NFE2L1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000035676 -- 48,059,834(+) G/A 3_prime_UTR_variant
rs1000230474 -- 48,048,335(+) GGTAGCAGG/GG 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000253068 -- 48,056,922(+) G/A/T intron_variant
rs1000489262 -- 48,060,664(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000639718 -- 48,058,311(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NFE2L1 Gene

Variant ID Type Subtype PubMed ID
nsv953920 CNV deletion 24416366
nsv469808 CNV loss 16826518

Variation tolerance for NFE2L1 Gene

Residual Variation Intolerance Score: 7.74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFE2L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFE2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFE2L1 Gene

Disorders for NFE2L1 Gene

Additional Disease Information for NFE2L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NFE2L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NFE2L1 Gene

Publications for NFE2L1 Gene

  1. Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast. (PMID: 8248256) Chan JY … Kan YW (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 22 58
  2. Nrf1 is targeted to the endoplasmic reticulum membrane by an N-terminal transmembrane domain. Inhibition of nuclear translocation and transacting function. (PMID: 16687406) Wang W … Chan JY (The Journal of biological chemistry 2006) 3 4 22 58
  3. Cloning and functional characterization of LCR-F1: a bZIP transcription factor that activates erythroid-specific, human globin gene expression. (PMID: 8036168) Caterina JJ … Townes TM (Nucleic acids research 1994) 3 4 22 58
  4. Transcription factor Nrf1 mediates the proteasome recovery pathway after proteasome inhibition in mammalian cells. (PMID: 20385086) Radhakrishnan SK … Deshaies RJ (Molecular cell 2010) 3 22 58
  5. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PMID: 20935630) Speliotes EK … Loos RJ (Nature genetics 2010) 3 44 58

Products for NFE2L1 Gene

Sources for NFE2L1 Gene

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