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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NFE2L1 Gene

protein-coding   GIFtS: 64
GCID: GC17P046125

Nuclear Factor, Erythroid 2-Like 1

(Previous name: nuclear factor (erythroid-derived 2)-like 1)
(Previous symbol: TCF11)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nuclear Factor, Erythroid 2-Like 11 2     TCF-112 3
TCF111 2 3     NF-E2-Related Factor 12 3
NRF12 3 5     NFE2-Related Factor 12 3
Nuclear Factor (Erythroid-Derived 2)-Like 11 2     LCR-F12
Locus Control Region-Factor 12 3     Nuclear Factor Erythroid 2-Related Factor 12
Nuclear Factor, Erythroid Derived 2, Like 12 3     Transcription Factor 11 (Basic Leucine Zipper Type)2
Transcription Factor HBZ172 3     HBZ173
Transcription Factor LCR-F12 3     Transcription Factor 113

External Ids:    HGNC: 77811   Entrez Gene: 47792   Ensembl: ENSG000000826417   OMIM: 1632605   UniProtKB: Q144943   

Export aliases for NFE2L1 gene to outside databases

Previous GC identifers: GC17P045831 GC17P048606 GC17P046467 GC17P046600 GC17P043480 GC17P041494


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with NFE2L1 include uterine fibroid, and leiomyoma, and among its related super-pathways are Factors Promoting Cardiogenesis in Vertebrates and MAPK Signaling. GO annotations related to this gene include transcription cofactor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is BACH2.

UniProtKB/Swiss-Prot: NF2L1_HUMAN, Q14494
Function: Activates erythroid-specific, globin gene expression

Gene Wiki entry for NFE2L1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFE2L1 gene promoter:
         Bach1   HEN1   AREB6   CBF-B   CP1A   Nkx2-5   CBF-C   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNFE2L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NFE2L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFE2L1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.3   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.3

NFE2L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFE2L1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P046125:  view genomic region     (about GC identifiers)

Start:
46,125,686 bp from pter      End:
46,138,907 bp from pter
Size:
13,222 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NF2L1_HUMAN, Q14494 (See protein sequence)
Recommended Name: Nuclear factor erythroid 2-related factor 1  
Size: 772 amino acids; 84704 Da
Subunit: Interacts with KEAP1
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Nucleus
Secondary accessions: D3DTU3 D3DTU5 Q12877 Q96FN6
Alternative splicing: 2 isoforms:  Q14494-1   Q14494-2   

Explore the universe of human proteins at neXtProt for NFE2L1: NX_Q14494

Explore proteomics data for NFE2L1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14494

  • NFE2L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFE2L1 Protein Expression
    REFSEQ proteins: NP_003195.1  
    ENSEMBL proteins: 
     ENSP00000462003   ENSP00000463657   ENSP00000354855   ENSP00000461960   ENSP00000350072  
     ENSP00000355190   ENSP00000463960   ENSP00000462253   ENSP00000462444   ENSP00000464018  
     ENSP00000462610   ENSP00000462971   ENSP00000464203   ENSP00000464446   ENSP00000463291  
     ENSP00000445811   ENSP00000463836   ENSP00000463744   ENSP00000461971  

    Human Recombinant Protein Products for NFE2L1: 
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    Cloud-Clone Corp. Proteins for NFE2L1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--

    NFE2L1 for ontologies           About GeneDecksing



    NFE2L1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for NFE2L1 

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    Cloud-Clone Corp. ELISAs for NFE2L1 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bZIP: basic leucine zipper proteins

    2 InterPro protein domains:
     IPR004827 bZIP
     IPR008917 Euk_TF_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q14494

    ProtoNet protein and cluster: Q14494

    1 Blocks protein domain: IPB011616 bZIP transcription factor

    UniProtKB/Swiss-Prot: NF2L1_HUMAN, Q14494
    Similarity: Belongs to the bZIP family. CNC subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    NFE2L1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NF2L1_HUMAN, Q14494
    Function: Activates erythroid-specific, globin gene expression

         Genatlas biochemistry entry for NFE2L1:
    nuclear factor,erythroid derived 2-like 1,Cap'n'collar (CNC) family of transcription factor,expressed in many
    tissues

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003712transcription cofactor activity TAS9826775
    GO:0005515protein binding ----
    GO:0043565sequence-specific DNA binding IEA--
         
    NFE2L1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Nfe2l1):
     cellular  embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  tumorigenesis 

    NFE2L1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NFE2L1: Nfe2l1tm1Tow Nfe2l1tm1Ywk

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NFE2L1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NFE2L1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NFE2L1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFE2L1 

    10/1134 SABiosciences Target genes for NFE2L1 (see all 1134):
    AARS2 AATK ABCC10 ABCC6P2 ABCE1 ABLIM1 ABLIM3 ABT1 ACAA2 ACER2

    miRNA
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    miRTarBase miRNAs that target NFE2L1:
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    8/79 QIAGEN miScript miRNA Assays for microRNAs that regulate NFE2L1 (see all 79):
    hsa-miR-124* hsa-miR-15a hsa-miR-605 hsa-miR-4305 hsa-miR-3653 hsa-miR-877* hsa-miR-4325 hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidNFE2L1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFE2L1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFE2L1
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                         Customized lentivirus expression plasmids for stable overexpression of NFE2L1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFE2L1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NFE2L1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency0.50
    Factors Promoting Cardiogenesis in Vertebrates0.50
    2Rho Family GTPases
    MAPK Signaling0.58
    ILK Signaling0.49
    3TGF-Beta Pathway
    JNK Pathway0.51
    4PAK Pathway
    Epithelial Adherens Junctions0.36
    5WNT Signaling
    WNT Signaling

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NFE2L1 (see all 7)
        MAPK Signaling
    ILK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Human Embryonic Stem Cell Pluripotency
    JNK Pathway



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFE2L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/21 Interacting proteins for NFE2L1 (Q144943 ENSP000003551904) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPN1P073843, ENSP000002792474I2D: score=3 STRING: ENSP00000279247
    JUNP054123, ENSP000003602664I2D: score=3 STRING: ENSP00000360266
    MAFGO155253, ENSP000003503694I2D: score=3 STRING: ENSP00000350369
    JUNBP172753, ENSP000003033154I2D: score=2 STRING: ENSP00000303315
    JUNDP175353, ENSP000002528184I2D: score=2 STRING: ENSP00000252818
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS9826775
    GO:0006783heme biosynthetic process TAS9501099
    GO:0006954inflammatory response TAS9826775
    GO:0009653anatomical structure morphogenesis TAS9501099

    NFE2L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NFE2L1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NFE2L1 (NF2L1)

    1 HMDB Compound for NFE2L1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    1 DrugBank Compound for NFE2L1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Lauryl Dimethylamine-N-Oxide-- --target--10592235

    2 Novoseek inferred chemical compound relationships for NFE2L1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gamma-glutamylcysteine 68.9 2 19187526 (1)
    leucine 62.1 9 16687406 (1), 9872330 (1), 9565602 (1), 20385086 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about NFE2L1 / NF2L1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NFE2L1 gene: 
    NM_003204.2  

    Unigene Cluster for NFE2L1:

    Nuclear factor (erythroid-derived 2)-like 1
    Hs.514284  [show with all ESTs]
    Unigene Representative Sequence: NM_003204
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000579889 ENST00000584137 ENST00000362042(uc002imz.4 uc002inb.4)
    ENST00000585291(uc002ina.4 uc010wle.2 uc010wlf.2) ENST00000357480
    ENST00000585299 ENST00000583060 ENST00000361665(uc002inc.1) ENST00000579481
    ENST00000582574 ENST00000585062 ENST00000581441 ENST00000579537 ENST00000583210
    ENST00000577411 ENST00000584634 ENST00000580050 ENST00000582155

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    Additional mRNA sequence: 

    AK090459.1 AK294553.1 AK302387.1 AL833530.1 BC010623.1 BC131769.1 BX647976.1 U08853.1 
    X77366.1 

    24/27 DOTS entries (see all 27):

    DT.95202118  DT.100059535  DT.91780188  DT.95085851  DT.95267618  DT.121193319  DT.95202156  DT.100800340 
    DT.120931625  DT.120931679  DT.95202168  DT.120931606  DT.120931668  DT.97808495  DT.100826080  DT.100826082 
    DT.120931600  DT.120931604  DT.120931660  DT.120931682  DT.452928  DT.95068639  DT.95202109  DT.95261049 

    24/647 AceView cDNA sequences (see all 647):

    CA432369 BU737784 CN480917 CB159156 AI208049 F21048 BC010623 BU630403 
    BQ787418 BU071849 BU730966 AI497686 AW500581 AU120634 BU783098 BM688732 
    AI912360 BQ182406 BU616435 CA390321 BM565563 CB529724 BX415992 BU617988 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for NFE2L1 (see all 11)    About this scheme

    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:                                                                                                  -                                             


    ECgene alternative splicing isoforms for NFE2L1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NFE2L1 expression in normal human tissues (normalized intensities)      NFE2L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACAAAATAAA
    NFE2L1 Expression
    About this image


    NFE2L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Lower Urinary Tract (Urinary System)
             visceral organ/urogenital sinus/nerves of urogenital sinus   
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord

    See NFE2L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFE2L1

    SOURCE GeneReport for Unigene cluster: Hs.514284
        SABiosciences Expression via Pathway-Focused PCR Array including NFE2L1: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NFE2L1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfe2l11 , 5 nuclear factor, erythroid derived 2,-like 11, 5 90.86(n)1
    97.43(a)1
      11 (60.12 cM)5
    180231  NM_001130450.11  NP_001123922.11 
     968174315 
    chicken
    (Gallus gallus)
    Aves NFE2L11 nuclear factor (erythroid-derived 2)-like 1 78.87(n)
    83.9(a)
      417987  NM_001030756.1  NP_001025927.1 
    lizard
    (Anolis carolinensis)
    Reptilia NFE2L16
    Uncharacterized protein
    79(a)
    1 ↔ 1
    6(74950138-74978690)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689922 hypothetical protein MGC68992 73.16(n)    BC059314.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5587721 nuclear factor erythroid 2-related factor 1-like 64.24(n)
    62.75(a)
      558772  XM_001920230.3  XP_001920265.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta cnc3 blastoderm segmentation transcription
    factor
    52(a)     --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NFE2L1 gene
    BACH22  NFE2L32  BACH12  NFE22  NFE2L22  
    4 SIMAP similar genes for NFE2L1 using alignment to 16 protein entries:     NF2L1_HUMAN (see all proteins):
    FLJ00380    BACH1    NFE2L3    NFE2L2

    NFE2L1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/373 SNPs in NFE2L1 are shown (see all 373)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116506151,2
    C,F,A,H--46123698(+) GGAAGC/GATCTC 1 -- us2k123Minor allele frequency- G:0.22NS EA NA WA 2596
    rs1448024881,2
    C--46123746(+) GCCTCA/TATCTC 1 -- us2k10--------
    rs1824655771,2
    --46123817(+) ACCAAA/GCCCAG 1 -- us2k10--------
    rs1400530041,2
    --46123906(+) GTGCTA/GCTGTG 1 -- us2k10--------
    rs37644001,2
    C,F,H--46123932(+) CCCAGT/CTCTAT 1 -- us2k121Minor allele frequency- C:0.19NS EA NA 2644
    rs414579491,2
    C,F,H--46123983(-) GTGGCC/TATCAA 1 -- us2k116Minor allele frequency- T:0.03NS EA NA 1572
    rs1439212701,2
    --46124066(+) GGTCTC/GCTATT 1 -- us2k10--------
    rs757619921,2
    C,F--46124148(+) GAAAAT/CCAGAG 1 -- us2k11Minor allele frequency- C:0.04NA 120
    rs1420273951,2
    C--46124161(+) CTGCC-/TGCT  
            
    TGAGT
    1 -- us2k10--------
    rs778904021,2
    F--46124197(+) TGAGTG/CTCTAC 1 -- us2k11Minor allele frequency- C:0.01EA 120

    HapMap Linkage Disequilibrium report for NFE2L1 (46125686 - 46138907 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NFE2L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv469808CNV Complex16826518

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 163260    OMIM disorders: --

    6 diseases for NFE2L1:    About MalaCards
    uterine fibroid    leiomyoma    hypoxia    hepatitis b
    anemia    hepatitis

    1 disease from the University of Copenhagen DISEASES database for NFE2L1:
    Uterine fibroid

    NFE2L1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NFE2L1
    Human Genome Epidemiology (HuGE) Navigator: NFE2L1 (1 document)

    Export disorders for NFE2L1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NFE2L1 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with NFE2L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of Nrf1, an NF-E2-related transcription factor, by genetic selection in yeast. (PubMed id 8248256)1, 2, 3, 9 Chan J.Y.... Kan Y.W. (1993)
    2. Nrf1 is targeted to the endoplasmic reticulum membrane by an N-terminal transmembrane domain. Inhibition of nuclear translocation and transacting function. (PubMed id 16687406)1, 2, 9 Wang W. and Chan J.Y. (2006)
    3. Cloning and functional characterization of LCR-F1: a bZIP transcription factor that activates erythroid-specific, human globin gene expression. (PubMed id 8036168)1, 2, 9 Caterina J.J.... Townes T.M. (1994)
    4. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PubMed id 20935630)1, 4 Speliotes E.K....Loos R.J. (2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Targeted disruption of the ubiquitous CNC-bZIP transcription factor, Nrf-1, results in anemia and embryonic lethality in mice. (PubMed id 9501099)1, 3 Chan J.Y....Kan Y.W. (1998)
    7. Molecular cloning of a putative novel human bZIP transcription factor on chromosome 17q22. (PubMed id 8001966)1, 2 Luna L.... Kolstoe A.-B. (1994)
    8. Small Maf proteins interact with the human transcription factor TCF11/Nrf1/LCR-F1. (PubMed id 8932385)1, 9 Johnsen O....Kolsto A.B. (1996)
    9. The p65 isoform of Nrf1 is a dominant negative inhibitor of ARE-mediated transcription. (PubMed id 17609210)1, 9 Wang W....Chan J.Y. (2007)
    10. Nrf2 and Nrf1 in association with Jun proteins regulate antioxidant response element-mediated expression and coordinated induction of genes encoding detoxifying enzymes. (PubMed id 9872330)1, 9 Venugopal R. and Jaiswal A.K. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4779 HGNC: 7781 AceView: NFE2L1 Ensembl:ENSG00000082641 euGenes: HUgn4779
    ECgene: NFE2L1 H-InvDB: NFE2L1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NFE2L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NFE2L1 gene:
    Search GeneIP for patents involving NFE2L1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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