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. Alternative ... See more...

Aliases for NRF1 Gene

Aliases for NRF1 Gene

  • Nuclear Respiratory Factor 1 2 3 4 5
  • Alpha Palindromic-Binding Protein 2 3 4
  • ALPHA-PAL 2 3
  • Alpha-Pal 4
  • NRF-1 4
  • NRF1 5
  • EWG 2

External Ids for NRF1 Gene

Previous GeneCards Identifiers for NRF1 Gene

  • GC07P127727
  • GC07P128790
  • GC07P128804
  • GC07P128845
  • GC07P129038
  • GC07P129251
  • GC07P123613

Summaries for NRF1 Gene

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. Alternative splicing results in multiple transcript variants. 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, May 2014]

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 Oncocytoma. Among its related pathways are Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific.

UniProtKB/Swiss-Prot Summary for NRF1 Gene

  • 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

Additional gene information for NRF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NRF1 Gene

Genomics for NRF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NRF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J129610 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 615.1 +0.4 357 3.4 HNRNPL CTCF PRDM10 ZNF629 SIX5 ZNF692 POLR2A BACH1 ZHX2 JUND NRF1 ENSG00000273329 lnc-SMKR1-3 piR-57012 ENSG00000271553 RNU7-16P ENSG00000243230 AHCYL2 lnc-NRF1-1 MN298441
GH07J129052 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 45.8 -557.3 -557319 4 ZNF221 SP1 GATAD2A PRDM10 REST ZNF629 TFE3 ZNF512 RFX1 SIX5 TNPO3 TPI1P2 lnc-TSPAN33-4 ENSG00000243679 ENSG00000242588 NRF1 ENSG00000243302 ENSG00000230715 ENSG00000271553 ENSG00000229413
GH07J128737 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 37.3 -871.1 -871058 6.5 RNF2 SP1 CREB1 HNRNPL ZNF629 PRDM10 LEF1 IKZF1 POLR2A BACH1 CALU ENSG00000243302 ENSG00000230715 ENSG00000243679 ENSG00000242588 NRF1 ENSG00000229413 OPN1SW RPS10P15 RBM28
GH07J129947 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 30.4 +338.8 338780 6.2 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 UBE2H NRF1 COPG2 ENSG00000270953 ENSG00000244036 lnc-ZC3HC1-2 lnc-NRF1-2
GH07J129433 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 28.7 -176.7 -176719 3.2 SP1 CREB1 CTCF PRDM10 IKZF1 ZNF692 BACH1 FOS JUND LARP7 STRIP2 lnc-TNPO3-10 ENSG00000243302 ENSG00000230715 ENSG00000243679 NRF1 ENSG00000242588 ENSG00000229413 ENSG00000238072 RPS10P15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NRF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NRF1

Top Transcription factor binding sites by QIAGEN in the NRF1 gene promoter:
  • aMEF-2
  • MEF-2A
  • YY1

Genomic Locations for NRF1 Gene

Genomic Locations for NRF1 Gene
chr7:129,611,720-129,757,082
(GRCh38/hg38)
Size:
145,363 bases
Orientation:
Plus strand
chr7:129,251,555-129,396,922
(GRCh37/hg19)
Size:
145,368 bases
Orientation:
Plus strand

Genomic View for NRF1 Gene

Genes around NRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRF1 Gene

Proteins for NRF1 Gene

  • Protein details for NRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16656-NRF1_HUMAN
    Recommended name:
    Nuclear respiratory factor 1
    Protein Accession:
    Q16656
    Secondary Accessions:
    • A8K4C6
    • B4DDV6
    • Q15305
    • Q96AN2

    Protein attributes for NRF1 Gene

    Size:
    503 amino acids
    Molecular mass:
    53541 Da
    Quaternary structure:
    • Homodimer. Binds DNA as a dimer. Interacts with PPRC1.

    Alternative splice isoforms for NRF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NRF1 Gene

Post-translational modifications for NRF1 Gene

Antibody Products

  • Abcam antibodies for NRF1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NRF1

No data available for DME Specific Peptides for NRF1 Gene

Domains & Families for NRF1 Gene

Gene Families for NRF1 Gene

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

Protein Domains for NRF1 Gene

InterPro:
Blocks:
  • Transcription factor, MADS-box
ProtoNet:

Suggested Antigen Peptide Sequences for NRF1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57098, highly similar to Nuclear respiratory factor 1 (B4DDV6_HUMAN)
  • Alpha palindromic-binding protein (NRF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16656

UniProtKB/Swiss-Prot:

NRF1_HUMAN :
  • Belongs to the NRF1/Ewg family.
Family:
  • Belongs to the NRF1/Ewg family.
genes like me logo Genes that share domains with NRF1: view

Function for NRF1 Gene

Molecular function for NRF1 Gene

UniProtKB/Swiss-Prot 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:
nuclear respiratory factor 1,involved in the regulation of mitochondrial biogenesis and in oxidative phosphorylation

Phenotypes From GWAS Catalog for NRF1 Gene

Gene Ontology (GO) - Molecular Function for NRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 19674972
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 23525105
GO:0001046 core promoter sequence-specific DNA binding IBA,ISS --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 19674972
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with NRF1: view
genes like me logo Genes that share phenotypes with NRF1: view

Animal Models for NRF1 Gene

MGI Knock Outs for NRF1:

Animal Model Products

CRISPR Products

miRNA for NRF1 Gene

miRTarBase miRNAs that target NRF1
Targeted motifs for NRF1 Gene
HOMER Transcription Factor Regulatory Elements motif NRF1
  • Consensus sequence: CTGCGCATGCGC Submotif: canonical Cell Type: MCF7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NRF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for NRF1 Gene

Localization for NRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRF1 Gene

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 NRF1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
mitochondrion 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,ISS --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with NRF1: view

Pathways & Interactions for NRF1 Gene

genes like me logo Genes that share pathways with NRF1: view

Pathways by source for NRF1 Gene

SIGNOR curated interactions for NRF1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for NRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 7629110
GO:0006357 regulation of transcription by RNA polymerase II TAS,IBA 21873635
GO:0007005 mitochondrion organization TAS --
GO:0045944 positive regulation of transcription by RNA polymerase II IMP 19674972
genes like me logo Genes that share ontologies with NRF1: view

Drugs & Compounds for NRF1 Gene

(12) Drugs for NRF1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0
heme Pharma Agonist 0

(5) Additional Compounds for NRF1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with NRF1: view

Transcripts for NRF1 Gene

mRNA/cDNA for NRF1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NRF1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NRF1 Gene

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:
SP6:
SP7:

Relevant External Links for NRF1 Gene

GeneLoc Exon Structure for
NRF1

Expression for NRF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NRF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NRF1 Gene

This gene is overexpressed in CD8 Tcells (13.4), Blymphocyte (10.7), NK cells (9.2), and Placenta (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NRF1 Gene



Protein tissue co-expression partners for NRF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NRF1

SOURCE GeneReport for Unigene cluster for NRF1 Gene:

Hs.654363

mRNA Expression by UniProt/SwissProt for NRF1 Gene:

Q16656-NRF1_HUMAN
Tissue specificity: Ubiquitously expressed with strongest expression in skeletal muscle.

Evidence on tissue expression from TISSUES for NRF1 Gene

  • Intestine(4.4)
  • Muscle(2.8)
  • Heart(2.5)
  • Liver(2.5)
  • Nervous system(2.5)
  • Blood(2.4)
  • Skin(2.3)
  • Kidney(2.2)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with NRF1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NRF1 Gene

Orthologs for NRF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NRF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NRF1 30 31
  • 99.8 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NRF1 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia NRF1 30 31
  • 93.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NRF1 30 31
  • 92.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nrf1 30 17 31
  • 91.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nrf1 30
  • 91.85 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NRF1 31
  • 91 (a)
OneToOne
Chicken
(Gallus gallus)
Aves F 31
  • 99 (a)
OneToOne
NRF1 30
  • 83.43 (n)
Lizard
(Anolis carolinensis)
Reptilia NRF1 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nrf1 30
  • 77.76 (n)
Str.3769 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3115 30
Zebrafish
(Danio rerio)
Actinopterygii nrf1 30 31
  • 75.96 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta ewg 31 32
  • 24 (a)
OneToOne
Species where no ortholog for NRF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 NRF1 Gene

ENSEMBL:
Gene Tree for NRF1 (if available)
TreeFam:
Gene Tree for NRF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NRF1: view image

Paralogs for NRF1 Gene

No data available for Paralogs for NRF1 Gene

Variants for NRF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NRF1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
722654 Benign: not provided 129,657,483(+) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
779428 Benign: not provided 129,671,445(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
782028 Benign: not provided 129,727,250(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NRF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NRF1 Gene

Variant ID Type Subtype PubMed ID
esv23078 CNV gain 19812545
esv2674051 CNV deletion 23128226
esv3542421 CNV deletion 23714750
esv3615004 CNV loss 21293372
esv3615005 CNV gain 21293372
nsv474317 CNV novel sequence insertion 20440878
nsv516024 CNV gain+loss 19592680
nsv5948 CNV insertion 18451855

Variation tolerance for NRF1 Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NRF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NRF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NRF1 Gene

Disorders for NRF1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NRF1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
skin carcinoma in situ
  • carcinoma in situ of skin
oncocytoma
  • oxyphilic adenoma
spastic entropion
cicatricial entropion
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards
Search NRF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NRF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NRF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NRF1 Gene

Publications for NRF1 Gene

  1. Genetic variation and association analyses of the nuclear respiratory factor 1 (nRF1) gene in Chinese patients with type 2 diabetes. (PMID: 18071027) Liu Y … Liu Y (Diabetes 2008) 3 23 41
  2. Association between polymorphisms in the nuclear respiratory factor 1 gene and type 2 diabetes mellitus in the Korean population. (PMID: 16082529) Cho YM … Lee HK (Diabetologia 2005) 3 23 41
  3. Pgc-1-related coactivator, a novel, serum-inducible coactivator of nuclear respiratory factor 1-dependent transcription in mammalian cells. (PMID: 11340167) Andersson U … Scarpulla RC (Molecular and cellular biology 2001) 3 4 23
  4. Serine phosphorylation within a concise amino-terminal domain in nuclear respiratory factor 1 enhances DNA binding. (PMID: 9228045) Gugneja S … Scarpulla RC (The Journal of biological chemistry 1997) 3 4 23
  5. Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. (PMID: 7629110) Gopalakrishnan L … Scarpulla RC (The Journal of biological chemistry 1995) 3 4 23

Products for NRF1 Gene

  • Signalway ELISA kits for NRF1