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Aliases for NRF1 Gene

Aliases for NRF1 Gene

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

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. Among its related pathways are Mitochondrial Gene Expression and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRF1 Gene

Genomics for NRF1 Gene

Regulatory Elements for NRF1 Gene

Enhancers for NRF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G129610 1.1 ENCODE 5.9 +0.2 192 3.1 HDGF PKNOX1 ARNT CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ENSG00000230715 ENSG00000243302 ENSG00000243679 TNPO3 RN7SL81P ENSG00000229413 RNU7-16P AHCYL2 ENSG00000243230 ENSG00000273329
GH07G129608 1 Ensembl ENCODE 5.3 -4.6 -4566 1.3 CTCF ZNF146 CBX3 RB1 ZNF140 ZMYM3 RAD21 POLR2A SMC3 FOS RNU7-16P ENSG00000273329 NRF1 TMEM209 PIR51011 SMKR1
GH07G129569 1.2 Ensembl ENCODE 4.3 -41.7 -41715 1.4 FOXA2 CBX3 NFIB SIN3A ZNF48 ZNF2 RAD21 RARA ZNF23 GATA2 AHCYL2 ENSG00000243230 ENSG00000244036 TMEM209 NRF1 PIR51011 SMKR1
GH07G129614 0.8 ENCODE 5.6 +3.5 3489 1.4 ELF3 TBP PKNOX1 MXI1 SAP130 ARID4B MAX CEBPG RELA ARID3A AHCYL2 ENSG00000243230 NRF1 ENSG00000273329 GC07P129743 PIR62249
GH07G130008 1.6 FANTOM5 Ensembl ENCODE 2.2 +398.2 398170 3.1 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A ZNF766 ZNF143 ZNF207 FOS UBE2H ENSG00000199516 KLHDC10 ZC3HC1 ENSG00000273319 NRF1 GC07P130029 GC07M129961
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NRF1 on UCSC Golden Path with GeneCards custom track

Promoters for NRF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000217877 298 2401 HDGF PKNOX1 ARNT CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1

Genomic Location for NRF1 Gene

Chromosome:
7
Start:
129,611,702 bp from pter
End:
129,757,082 bp from pter
Size:
145,381 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

No data available for DME Specific Peptides for NRF1 Gene

Domains & Families for NRF1 Gene

Suggested Antigen Peptide Sequences for NRF1 Gene

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

No data available for Gene Families for NRF1 Gene

Function for NRF1 Gene

Molecular function for NRF1 Gene

GENATLAS Biochemistry:
nuclear respiratory factor 1,involved in the regulation of mitochondrial biogenesis and in oxidative phosphorylation
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.

Gene Ontology (GO) - Molecular Function for NRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 19674972
GO:0001046 core promoter sequence-specific DNA binding ISS --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IMP 19674972
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
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

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
extracellular 5
nucleus 5
cytosol 5
mitochondrion 3
peroxisome 2

Gene Ontology (GO) - Cellular Components for NRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome IDA 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

SIGNOR curated interactions for NRF1 Gene

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 8034649
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with NRF1: view

Drugs & Compounds for NRF1 Gene

(13) 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 Nutra 0
Adenosine triphosphate Approved Nutra 0
heme Pharma Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with NRF1: view

Transcripts for NRF1 Gene

Unigene Clusters for NRF1 Gene

Nuclear respiratory factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
NRF1

Expression for NRF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NRF1 Gene



Protein tissue co-expression partners for NRF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NRF1 Gene:

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(4.1)
  • Muscle(2.5)
  • Heart(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with NRF1: view

Primer Products

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 34 35
  • 99.8 (n)
oppossum
(Monodelphis domestica)
Mammalia NRF1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NRF1 34 35
  • 93.9 (n)
cow
(Bos Taurus)
Mammalia NRF1 34 35
  • 92.63 (n)
mouse
(Mus musculus)
Mammalia Nrf1 34 16 35
  • 91.85 (n)
rat
(Rattus norvegicus)
Mammalia Nrf1 34
  • 91.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NRF1 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves F 35
  • 99 (a)
OneToOne
NRF1 34
  • 83.43 (n)
lizard
(Anolis carolinensis)
Reptilia NRF1 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nrf1 34
  • 77.76 (n)
Str.3769 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3115 34
zebrafish
(Danio rerio)
Actinopterygii nrf1 35 34
  • 75.96 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ewg 36 35
  • 60 (a)
Species where no ortholog for NRF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Paralogs for NRF1 Gene

No data available for Paralogs for NRF1 Gene

Variants for NRF1 Gene

Sequence variations from dbSNP and Humsavar for NRF1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000005204 -- 129,742,466(+) CTCCT(A/T)ATTCC intron-variant
rs1000009633 -- 129,756,534(+) TTAAC(-/TCTG)TCTTT utr-variant-3-prime
rs1000017301 -- 129,621,924(+) ATTAC(A/G)GGCAC intron-variant
rs1000044458 -- 129,631,204(+) TTGAA(G/T)ATTTC intron-variant
rs1000088967 -- 129,674,015(+) AGGCA(C/T)CTACA intron-variant

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)

Relevant External Links for NRF1 Gene

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

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

Disorders for NRF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NRF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
skin carcinoma in situ
  • carcinoma in situ of skin
- elite association - COSMIC cancer census association via MalaCards
Search NRF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NRF1

Genetic Association Database (GAD)
NRF1
Human Genome Epidemiology (HuGE) Navigator
NRF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NRF1
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 22 46 64
  2. Association between polymorphisms in the nuclear respiratory factor 1 gene and type 2 diabetes mellitus in the Korean population. (PMID: 16082529) Cho Y.M. … Lee H.K. (Diabetologia 2005) 3 22 46 64
  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 R.C. (Mol. Cell. Biol. 2001) 3 4 22 64
  4. Serine phosphorylation within a concise amino-terminal domain in nuclear respiratory factor 1 enhances DNA binding. (PMID: 9228045) Gugneja S. … Scarpulla R.C. (J. Biol. Chem. 1997) 3 4 22 64
  5. Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1. (PMID: 7629110) Gopalakrishnan L. … Scarpulla R.C. (J. Biol. Chem. 1995) 3 4 22 64

Products for NRF1 Gene

Sources for NRF1 Gene

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