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NRF1 Gene

protein-coding   GIFtS: 64
GCID: GC07P129251

Nuclear Respiratory Factor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nuclear Respiratory Factor 11 2
Alpha Palindromic-Binding Protein1 2 3
NRF-12 3
ALPHA-PAL2
Alpha-pal3

External Ids:    HGNC: 79961   Entrez Gene: 48992   Ensembl: ENSG000001064597   OMIM: 6008795   UniProtKB: Q166563   

Export aliases for NRF1 gene to outside databases

Previous GC identifers: GC07P127727 GC07P128790 GC07P128804 GC07P128845 GC07P129038 GC07P123613


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NRF1 Gene:
This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the
expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration,
heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with
the regulation of neurite outgrowth. Alternate transcriptional splice variants, which encode the same protein,
have been characterized. Additional variants encoding different protein isoforms have been described but they
have not been fully characterized. Confusion has occurred in bibliographic databases due to the shared symbol of
NRF1 for this gene and for 'nuclear factor (erythroid-derived 2)-like 1' which has an official symbol of NFE2L1.
(provided by RefSeq, Jul 2008)

GeneCards Summary for NRF1 Gene:
NRF1 (nuclear respiratory factor 1) is a protein-coding gene. Diseases associated with NRF1 include skin carcinoma in situ, and nephrosis.

UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656
Function: Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the
transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control
of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication

Gene Wiki entry for NRF1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the NRF1 gene promoter:
         MEF-2A   aMEF-2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNRF1 promoter sequence
   Search Chromatin IP Primers for NRF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NRF1


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

Entrez Gene cytogenetic band: 7q32   Ensembl cytogenetic band:  7q32.2   HGNC cytogenetic band: 7q32

NRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NRF1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P129251:  view genomic region     (about GC identifiers)

Start:
129,251,555 bp from pter      End:
129,396,922 bp from pter
Size:
145,368 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 128,635,837-128,781,204     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656 (See protein sequence)
Recommended Name: Nuclear respiratory factor 1  
Size: 503 amino acids; 53541 Da
Subunit: Homodimer. Binds DNA as a dimer. Interacts with PPRC1
Secondary accessions: Q15305
Alternative splicing: 2 isoforms:  Q16656-1   Q16656-2   

Explore the universe of human proteins at neXtProt for NRF1: NX_Q16656

Explore proteomics data for NRF1 at MOPED

Post-translational modifications: 

  • Phosphorylation enhances DNA binding1
  • Ubiquitination2 at Lys139
  • Modification sites at PhosphoSitePlus

  • See NRF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001035199.1  NP_005002.3  

    ENSEMBL proteins: 
     ENSP00000394877   ENSP00000223190   ENSP00000309826   ENSP00000376922   ENSP00000376924  
     ENSP00000342351   ENSP00000376923   ENSP00000440455  
    Reactome Protein details: Q16656

    NRF1 Human Recombinant Protein Products:

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    Novus Biologicals NRF1 Proteins
    Novus Biologicals NRF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NRF1

    NRF1 Antibody Products:

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    NRF1 Assay Products:

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    GenScript Custom Assay Services for NRF1
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    Cloud-Clone Corp. ELISAs for NRF1
    Cloud-Clone Corp. CLIAs for NRF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR019526 Nrf1_activation-bd
     IPR019525 Nrf1_NLS/DNA-bd_dimer

    Graphical View of Domain Structure for InterPro Entry Q16656

    ProtoNet protein and cluster: Q16656

    1 Blocks protein domain: IPB002100 Transcription factor

    UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656
    Similarity: Belongs to the NRF1/Ewg family


    NRF1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NRF1_HUMAN, Q16656
    Function: Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the
    transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control
    of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication

         Genatlas biochemistry entry for NRF1:
    nuclear respiratory factor 1,involved in the regulation of mitochondrial biogenesis and in oxidative
    phosphorylation

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
         
    NRF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NRF1:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nrf1):
     cellular  mortality/aging 

    NRF1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NRF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NRF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NRF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NRF1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  CTGCGCATGCGC 

    miRNA
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    miRTarBase miRNAs that target NRF1:
    hsa-mir-124-3p (MIRT022754), hsa-mir-320a (MIRT044600)

    Block miRNA regulation of human, mouse, rat NRF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NRF1 (see all 54):
    hsa-miR-411* hsa-miR-379* hsa-miR-300 hsa-miR-199a-3p hsa-miR-411 hsa-miR-485-3p hsa-miR-25 hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidNRF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NRF1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): NRF1 (NM_005011)
    Sino Biological Human cDNA Clone for NRF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NRF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NRF1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for NRF1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NRF1_HUMAN, Q16656: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion3
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    NRF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NRF1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.45
    5Mitochondrial Gene Expression
    Mitochondrial Gene Expression

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NRF1
        PGC1Alpha Pathway

    1 Cell Signaling Technology (CST) Pathway for NRF1
        Glucose / Energy Metabolism

    2 BioSystems Pathways for NRF1
        Mitochondrial Gene Expression
    Energy Metabolism


    2 Reactome Pathways for NRF1
        PPARA activates gene expression
    Transcriptional activation of mitochondrial biogenesis


    1 Kegg Pathway  (Kegg details for NRF1):
        Huntington's disease


    NRF1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NRF1: 
              Diabetes in human mouse rat
              Adipogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NRF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for NRF1 (Q166563 ENSP000002231904) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPARGC1AQ9UBK23, ENSP000002648674I2D: score=2 STRING: ENSP00000264867
    NFE2L2Q162363, ENSP000003802524I2D: score=1 STRING: ENSP00000380252
    PPRC1Q5VV673, ENSP000002780704I2D: score=3 STRING: ENSP00000278070
    CEBPBP176763, ENSP000003054224I2D: score=1 STRING: ENSP00000305422
    DYNLL1P631673, ENSP000002425774I2D: score=3 STRING: ENSP00000242577
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0006091generation of precursor metabolites and energy TAS7629110
    GO:0006351transcription, DNA-templated IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8034649
    GO:0007005mitochondrion organization IEA--

    NRF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NRF1

    5 HMDB Compounds for NRF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    Selected Novoseek inferred chemical compound relationships for NRF1 gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pgc1 77.2 1 11099489 (1)
    aicar 51.3 2 16380484 (1), 15294043 (1)
    citrate 41.8 1 12882902 (1)
    atp 33.7 5 1348057 (2), 12539966 (1), 20107110 (1)
    oxygen 29.9 7 16650604 (2), 12882902 (1), 10364186 (1), 18252725 (1)
    ionomycin 24 2 10381170 (1), 15294043 (1)
    carnitine 9.93 4 12149506 (2), 9326621 (1)
    fatty acid 3.41 1 15525607 (1)
    nitric oxide 0 3 14764826 (1), 15483672 (1), 19615412 (1)
    lipid 0 2 16650604 (2)



    NRF1 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NRF1 gene (2 alternative transcripts): 
    NM_001040110.1  NM_005011.3  

    Unigene Cluster for NRF1:

    Nuclear respiratory factor 1
    Hs.654363  [show with all ESTs]
    Unigene Representative Sequence: NM_005011
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477428 ENST00000454688 ENST00000223190 ENST00000311967 ENST00000393230(uc003vpb.3)
    ENST00000393232(uc003voz.3 uc003vpa.3 uc011kpa.2) ENST00000353868
    ENST00000393231 ENST00000539636
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NRF1 (see all 54):
    hsa-miR-411* hsa-miR-379* hsa-miR-300 hsa-miR-199a-3p hsa-miR-411 hsa-miR-485-3p hsa-miR-25 hsa-miR-371-5p
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NRF1
      QuantiFast Probe-based Assays in human, mouse, rat NRF1

    Additional mRNA sequence: 

    AK290891.1 AK293351.1 BC016925.1 EU159452.1 L22454.1 U44848.1 

    8 DOTS entries:

    DT.95271802  DT.100751923  DT.95271800  DT.100751922  DT.100751925  DT.100751926  DT.86800018  DT.99966657 

    Selected AceView cDNA sequences (see all 106):

    AW003022 BX095165 BM701679 BM849892 BM825134 AA461131 AI633375 BM724718 
    BC016925 AA643873 BU622865 NM_005011 BI962805 AA460829 AW304848 BM846421 
    BM717416 AI354871 BM839518 BQ922657 AI784124 AW408538 AA989293 AA830224 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NRF1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c
    SP1:                    -     -     -                                                     -     -                                       
    SP2:                          -     -                                                     -     -                 -                     
    SP3:                    -     -     -                                                     -     -                 -                     
    SP4:                    -     -                                                                                                         
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for NRF1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NRF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTCTGTGT
    NRF1 Expression
    About this image


    NRF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epithelial Cells
             Hepatoblasts Liver Bud
     
     Liver (Hepatobiliary System)
             Hepatoblasts Liver Bud
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
    NRF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NRF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654363

    UniProtKB/Swiss-Prot: NRF1_HUMAN, Q16656
    Tissue specificity: Ubiquitously expressed with strongest expression in skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NRF1: 
              Diabetes in human mouse rat
              Adipogenesis in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NRF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRF1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NRF1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nrf11 , 5 nuclear respiratory factor 11, 5 91.85(n)1
    99.78(a)1
      6 (12.47 cM)5
    181811  NM_001164227.11  NP_001157699.11 
     300479885 
    chicken
    (Gallus gallus)
    Aves NRF11 nuclear respiratory factor 1 83.43(n)
    99.01(a)
      416677  NM_001030646.1  NP_001025817.1 
    lizard
    (Anolis carolinensis)
    Reptilia NRF16
    nuclear respiratory factor 1
    97(a)
    1 ↔ 1
    GL343653.1(297522-353632)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.31152 Xenopus laevis transcribed sequence with strong similarity more 78.09(n)    BJ072101.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nrf12 nuclear respiratory factor 1 75.91(n)   64604  BC044537.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ewg3 central nervous system development DNA
    binding
    60(a)   1 1A1   --


    ENSEMBL Gene Tree for NRF1 (if available)
    TreeFam Gene Tree for NRF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NRF1 (see all 2655)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs671904991,2
    C--123621030(-) TATAT-/ATA   
       TATAT
    ATATA
    1 -- int11Minor allele frequency- ATATATAT:0.00NA 2
    rs802035071,2
    F--129249573(+) GGTGTA/TGAGAG 1 -- us2k10--------
    rs734646431,2
    C,F--129249581(+) GAGAAA/GTGAAG 1 -- us2k12Minor allele frequency- G:0.10WA 120
    rs734646441,2
    C--129249618(+) AACAGC/TTGTGA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1831813331,2
    --129249634(+) CACAAC/TTTCCA 1 -- us2k10--------
    rs1417988161,2
    --129249658(+) TGAGAA/GCTTCC 1 -- us2k10--------
    rs69611021,2
    C,H--129249773(+) ctttaA/Tcctac 1 -- us2k112Minor allele frequency- T:0.12NA WA CSA EA 375
    rs1505001051,2
    --129249853(+) CAAGCG/TGTAGT 1 -- us2k10--------
    rs1865254681,2
    --129249908(+) TCTACC/TGCAGT 1 -- us2k10--------
    rs1917996921,2
    --129249995(+) GGCTGC/GGTGCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NRF1 (129251555 - 129396922 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NRF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674051CNV Deletion23128226
    nsv5948CNV Insertion18451855
    esv23078CNV Gain19812545
    nsv516024CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600879    OMIM disorders: --

    Selected diseases for NRF1 (see all 27):    
    About MalaCards
    skin carcinoma in situ    nephrosis    focal segmental glomerulosclerosis    fragile x syndrome
    hyperglycemia    rhabdomyosarcoma    kaposi's sarcoma    insulin resistance
    huntington's disease    mental retardation    liver disease    sarcoma
    hypoxia    diabetes mellitus    hepatitis b    obesity
    neuroblastoma    thyroiditis    breast cancer    ovarian cancer

    2 diseases from the University of Copenhagen DISEASES database for NRF1:
    Skin carcinoma in situ     Fragile X syndrome

    NRF1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for NRF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitochondrial diseases 43.2 1 7629110 (1)
    oncocytoma 32 2 14550271 (1)
    niddm 7.44 1 16082529 (1)
    breast cancer 0 1 18823535 (1)
    tumors 0 2 14550271 (1)
    obesity 0 1 17397829 (1)
    cancer 0 2 12174908 (1), 20145141 (1)

    Genetic Association Database (GAD): NRF1
    Human Genome Epidemiology (HuGE) Navigator: NRF1 (14 documents)

    Export disorders for NRF1 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)
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    PubMed articles for NRF1 gene, integrated from 10 sources (see all 192):
    (articles sorted by number of sources associating them with NRF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. (PubMed id 7629110)1, 2, 9 Gopalakrishnan L. and Scarpulla R.C. (J. Biol. Chem. 1995)
    2. NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators. (PubMed id 8253388)1, 2, 9 Virbasius C.A.... Scarpulla R.C. (Genes Dev. 1993)
    3. Genetic variation and association analyses of the nuclear respiratory factor 1 (nRF1) gene in Chinese patients with type 2 diabetes. (PubMed id 18071027)1, 4, 9 Liu Y....Liu Y. (Diabetes 2008)
    4. Pgc-1-related coactivator, a novel, serum-inducible coactivator of nuclear respiratory factor 1-dependent transcription in mammalian cells. (PubMed id 11340167)1, 2, 9 Andersson U. and Scarpulla R.C. (Mol. Cell. Biol. 2001)
    5. Serine phosphorylation within a concise amino-terminal domain in nuclear respiratory factor 1 enhances DNA binding. (PubMed id 9228045)1, 2, 9 Gugneja S. and Scarpulla R.C. (J. Biol. Chem. 1997)
    6. A key transcription factor for eukaryotic initiation factor-2 alpha is strongly homologous to developmental transcription factors and may link metabolic genes to cellular growth and development. (PubMed id 8034649)1, 2, 9 Efiok B.J.S.... Safer B. (J. Biol. Chem. 1994)
    7. Association between polymorphisms in the nuclear respiratory factor 1 gene and type 2 diabetes mellitus in the Korean population. (PubMed id 16082529)1, 4, 9 Cho Y.M....Lee H.K. (Diabetologia 2005)
    8. The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines. (PubMed id 8541844)1, 2, 9 Spelbrink J.N. and Van den Bogert C. (Hum. Mol. Genet. 1995)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 4899 HGNC: 7996 AceView: NRF1 Ensembl:ENSG00000106459 euGenes: HUgn4899
    ECgene: NRF1 Kegg: 4899 H-InvDB: NRF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NRF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NRF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NRF1 gene:
    Search GeneIP for patents involving NRF1

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



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