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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 ERK Signaling and Human Embryonic Stem Cell Pluripotency. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

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

Genomics for NFE2L1 Gene

Regulatory Elements for NFE2L1 Gene

Enhancers for NFE2L1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G048023 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12 -23.0 -23002 4.6 CREB3L1 ZFP64 DMAP1 FEZF1 ZNF143 ZNF548 SP3 NFYC TBX21 MEF2D SNX11 ENSG00000266601 CDK5RAP3 COPZ2 ITGB3 ENSG00000253347 MRPL45P2 SKAP1 PRR15L NFE2L1
GH17G048011 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -34.9 -34893 4.3 HDGF PKNOX1 ARNT SIN3A ZNF2 ZBTB7B ZNF143 ZNF207 ZNF548 ZNF263 PRR15L SCRN2 COPZ2 CDK5RAP3 SKAP1 MRPL45P2 CBX1 SUMO2P17 MIR152 RPS2P47
GH17G048001 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -44.9 -44924 4.4 HDGF ARNT ZNF133 SIN3A YBX1 FEZF1 ZBTB7B YY1 ZNF121 ZNF766 PRR15L PNPO SP2-AS1 HOXB4 ENSG00000266601 NFE2L1 SNX11 CBX1 COPZ2 TBKBP1
GH17G047944 1.6 Ensembl ENCODE dbSUPER 9.8 -95.3 -95294 17.0 HDGF PKNOX1 FOXA2 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SCRN2 PRR15L CDK5RAP3 COPZ2 PNPO SP2 CBX1 SNX11 NFE2L1 LOC102724532
GH17G047970 1.4 ENCODE dbSUPER 10.8 -77.0 -77002 2.1 CREB3L1 AGO1 ZFP64 YBX1 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 SCRN2 PNPO PRR15L CDK5RAP3 SP2-AS1 KPNB1 MRPL45P2 SP2 NFE2L1 ENSG00000266601
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NFE2L1 on UCSC Golden Path with GeneCards custom track

Promoters for NFE2L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000283610 176 3001 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 PPARGC1A SSRP1

Genomic Location for NFE2L1 Gene

Chromosome:
17
Start:
48,048,324 bp from pter
End:
48,061,545 bp from pter
Size:
13,222 bases
Orientation:
Plus strand

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

  • Ubiquitination at posLast=7070
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NFE2L1 (NFE2L1)

No data available for DME Specific Peptides for NFE2L1 Gene

Domains & Families for NFE2L1 Gene

Gene Families for NFE2L1 Gene

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.

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 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

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

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 from RNA polymerase II promoter IBA --
GO:0006366 transcription from RNA polymerase II promoter 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:

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)
  • Muscle(3.1)
  • Heart(2.9)
  • Pancreas(2.9)
  • Intestine(2.3)
  • Kidney(2.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with NFE2L1: view

Primer Products

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 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia NFE2L1 34 35
  • 92.14 (n)
cow
(Bos Taurus)
Mammalia NFE2L1 34 35
  • 90.58 (n)
mouse
(Mus musculus)
Mammalia Nfe2l1 34 16 35
  • 90.5 (n)
rat
(Rattus norvegicus)
Mammalia Nfe2l1 34
  • 89.97 (n)
oppossum
(Monodelphis domestica)
Mammalia NFE2L1 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFE2L1 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFE2L1 34 35
  • 78.7 (n)
lizard
(Anolis carolinensis)
Reptilia NFE2L1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfe2l1 34
  • 65 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68992 34
zebrafish
(Danio rerio)
Actinopterygii nfe2l1b 34 35
  • 64.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta cnc 36 35
  • 52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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

Variants for NFE2L1 Gene

Sequence variations from dbSNP and Humsavar for NFE2L1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000035676 -- 48,059,834(+) GGAGT(A/G)GAAGT utr-variant-3-prime
rs1000230474 -- 48,048,335(+) AGTGC(-/GGTAGCA)GGAGG upstream-variant-2KB, utr-variant-5-prime
rs1000253068 -- 48,056,922(+) CATTA(A/G)CCTGG intron-variant
rs1000489262 -- 48,060,664(+) AATCT(A/G)GTGTA utr-variant-3-prime
rs1000639718 -- 48,058,311(+) GAACA(C/T)ATCAG reference, missense

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

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

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)

Relevant External Links 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

Relevant External Links for NFE2L1

Genetic Association Database (GAD)
NFE2L1
Human Genome Epidemiology (HuGE) Navigator
NFE2L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFE2L1

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 J.Y. … Kan Y.W. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 22 64
  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 J.Y. (J. Biol. Chem. 2006) 3 4 22 64
  3. Cloning and functional characterization of LCR-F1: a bZIP transcription factor that activates erythroid-specific, human globin gene expression. (PMID: 8036168) Caterina J.J. … Townes T.M. (Nucleic Acids Res. 1994) 3 4 22 64
  4. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PMID: 20935630) Speliotes E.K. … Loos R.J. (Nat. Genet. 2010) 3 46 64
  5. Transcription factor Nrf1 mediates the proteasome recovery pathway after proteasome inhibition in mammalian cells. (PMID: 20385086) Radhakrishnan S.K. … Deshaies R.J. (Mol. Cell 2010) 3 22 64

Products for NFE2L1 Gene

Sources for NFE2L1 Gene

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