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

NRF1 Gene

protein-coding   GIFtS: 62
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)
About This Section

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

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 nephrosis, and focal segmental glomerulosclerosis, and among its related super-pathways are Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolic pathways. GO annotations related to this gene include DNA binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NRF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus
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:

  • UniProtKB: Phosphorylation enhances DNA binding
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16656

  • NRF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NRF1 Protein Expression
    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
    Human Recombinant Protein Products for NRF1: 
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    Cloud-Clone Corp. Proteins for NRF1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--

    NRF1 for ontologies           About GeneDecksing



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

    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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for NRF1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NRF1 
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    Inhib. RNA
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    (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 NRF1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.47
    5Mitochondrial Gene Expression
    Mitochondrial Gene Expression

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5        Reactome Pathways for NRF1
        Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Metabolism
    PPARA Activates Gene Expression
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins


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


    NRF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NRF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for NRF1 (Q166563 ENSP000002231904) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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): 5/12 biological process terms (GO ID links to tree view) (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-dependent 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 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

    NRF1 for compounds           About GeneDecksing

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

    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--

    10/13 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)

    Search CenterWatch for drugs/clinical trials and news about NRF1

    (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 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
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    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 

    24/106 AceView cDNA sequences (see all 106):

    BI962805 BM717416 AW003022 BM839518 AI354871 AA643873 BC016925 AA989293 
    AA460829 BM849892 NM_005011 BM825134 BM724718 BM701679 BU622865 AA461131 
    AW304848 BX095165 AI633375 AW408538 AI784124 BM846421 BQ922657 AW074151 

    GeneLoc Exon Structure

    5/7 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™, 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

    NRF1 expression in normal human tissues (normalized intensities)      NRF1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Liver (Hepatobiliary System)
             Hepatoblasts Liver Bud
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus

    See NRF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NRF1

    SOURCE GeneReport for Unigene cluster: Hs.654363

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including NRF1: 
              Diabetes in human mouse rat
              Adipogenesis 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 NRF1 gene from 6/14 species (see all 14)    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
    Uncharacterized protein
    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 ewg1 , 3 central nervous system development DNA
    binding3
    erect wing1
    60(a)3
    49.64(n)1
    45.85(a)1
      1 1A13
    309751  NM_057544.41  NP_476892.41 


    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)
    About This Section
      --

    (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

    10/2655 SNPs in NRF1 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600879    OMIM disorders: --

    20/22 diseases for NRF1 (see all 22):    About MalaCards
    nephrosis    focal segmental glomerulosclerosis    fragile x syndrome    rhabdomyosarcoma
    hyperglycemia    mental retardation    huntington's disease    insulin resistance
    kaposi's sarcoma    diabetes mellitus    liver disease    hypoxia
    ovarian cancer    hepatitis b    neuroblastoma    sarcoma
    thyroiditis    breast cancer    hepatitis    endotheliitis

    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)
    About This Section

    PubMed articles for NRF1 gene, integrated from 9 sources (see all 188):
    (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. (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. (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. (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. (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. (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. (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. (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. (1995)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4899 HGNC: 7996 AceView: NRF1 Ensembl:ENSG00000106459 euGenes: HUgn4899
    ECgene: NRF1 Kegg: 4899 H-InvDB: NRF1

    (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 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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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