Human Gene NRF1 (ENST00000393232.6_5) from GENCODE V47lift37
  Description: nuclear respiratory factor 1, transcript variant 1 (from RefSeq NM_005011.5)
Gencode Transcript: ENST00000393232.6_5
Gencode Gene: ENSG00000106459.15_11
Transcript (Including UTRs)
   Position: hg19 chr7:129,251,561-129,396,916 Size: 145,356 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr7:129,297,192-129,395,021 Size: 97,830 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:129,251,561-129,396,916)mRNA (may differ from genome)Protein (503 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NRF1_HUMAN
DESCRIPTION: RecName: Full=Nuclear respiratory factor 1; Short=NRF-1; AltName: Full=Alpha palindromic-binding protein; Short=Alpha-pal;
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.
SUBUNIT: Homodimer. Binds DNA as a dimer. Interacts with PPRC1.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Ubiquitously expressed with strongest expression in skeletal muscle.
PTM: Phosphorylation enhances DNA binding.
SIMILARITY: Belongs to the NRF1/Ewg family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NRF1ID44233ch7q32.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NRF1
Diseases sorted by gene-association score: skin carcinoma in situ (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C059514 resveratrol
  • D001564 Benzo(a)pyrene
  • D002248 Carbon Monoxide
  • D004958 Estradiol
  • D013749 Tetrachlorodibenzodioxin
  • C516138 (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine
  • D015632 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine
  • C044755 1-methyl-4-phenyl-2,3-dihydropyridinium
  • C095284 1H-(1,2,4)oxadiazolo(4,3-a)quinoxalin-1-one
  • D019297 2,4-Dinitrophenol
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.72 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 280.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.80111-0.521 Picture PostScript Text
3' UTR -612.501895-0.323 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019526 - Nrf1_activation-bd
IPR019525 - Nrf1_NLS/DNA-bd_dimer

Pfam Domains:
PF10491 - NLS-binding and DNA-binding and dimerisation domains of Nrf1
PF10492 - Nrf1 activator activation site binding domain

SCOP Domains:
53706 - Formate dehydrogenase/DMSO reductase, domains 1-3

ModBase Predicted Comparative 3D Structure on Q16656
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006091 generation of precursor metabolites and energy
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007005 mitochondrion organization
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK293351 - Homo sapiens cDNA FLJ57098 complete cds, highly similar to Nuclear respiratory factor 1.
BC016925 - Homo sapiens nuclear respiratory factor 1, mRNA (cDNA clone MGC:21233 IMAGE:4397528), complete cds.
U02683 - Homo sapiens alpha palindromic binding protein mRNA, complete cds.
AK290891 - Homo sapiens cDNA FLJ77418 complete cds, highly similar to Homo sapiens nuclear respiratory factor-1 (NRF-1) mRNA.
L22454 - Homo sapiens nuclear respiratory factor-1 (NRF-1) mRNA, complete cds.
LF384087 - JP 2014500723-A/191590: Polycomb-Associated Non-Coding RNAs.
KJ901609 - Synthetic construct Homo sapiens clone ccsbBroadEn_11003 NRF1 gene, encodes complete protein.
AB463947 - Synthetic construct DNA, clone: pF1KB7803, Homo sapiens NRF1 gene for nuclear respiratory factor 1, without stop codon, in Flexi system.
EU446643 - Synthetic construct Homo sapiens clone IMAGE:100070163; IMAGE:100011852; FLH258168.01L nuclear respiratory factor 1 (NRF1) gene, encodes complete protein.
EU159452 - Homo sapiens nuclear respiratory factor 1 mRNA, complete cds.
MA619664 - JP 2018138019-A/191590: Polycomb-Associated Non-Coding RNAs.
LF207064 - JP 2014500723-A/14567: Polycomb-Associated Non-Coding RNAs.
JD447509 - Sequence 428533 from Patent EP1572962.
LF361002 - JP 2014500723-A/168505: Polycomb-Associated Non-Coding RNAs.
LF361009 - JP 2014500723-A/168512: Polycomb-Associated Non-Coding RNAs.
LF361016 - JP 2014500723-A/168519: Polycomb-Associated Non-Coding RNAs.
LF361025 - JP 2014500723-A/168528: Polycomb-Associated Non-Coding RNAs.
LF361026 - JP 2014500723-A/168529: Polycomb-Associated Non-Coding RNAs.
LF361028 - JP 2014500723-A/168531: Polycomb-Associated Non-Coding RNAs.
MA442641 - JP 2018138019-A/14567: Polycomb-Associated Non-Coding RNAs.
MA596579 - JP 2018138019-A/168505: Polycomb-Associated Non-Coding RNAs.
MA596586 - JP 2018138019-A/168512: Polycomb-Associated Non-Coding RNAs.
MA596593 - JP 2018138019-A/168519: Polycomb-Associated Non-Coding RNAs.
MA596602 - JP 2018138019-A/168528: Polycomb-Associated Non-Coding RNAs.
MA596603 - JP 2018138019-A/168529: Polycomb-Associated Non-Coding RNAs.
MA596605 - JP 2018138019-A/168531: Polycomb-Associated Non-Coding RNAs.
LF361048 - JP 2014500723-A/168551: Polycomb-Associated Non-Coding RNAs.
JD205934 - Sequence 186958 from Patent EP1572962.
LF361049 - JP 2014500723-A/168552: Polycomb-Associated Non-Coding RNAs.
LF361050 - JP 2014500723-A/168553: Polycomb-Associated Non-Coding RNAs.
LF361051 - JP 2014500723-A/168554: Polycomb-Associated Non-Coding RNAs.
JD244210 - Sequence 225234 from Patent EP1572962.
LF361052 - JP 2014500723-A/168555: Polycomb-Associated Non-Coding RNAs.
JD354255 - Sequence 335279 from Patent EP1572962.
LF361053 - JP 2014500723-A/168556: Polycomb-Associated Non-Coding RNAs.
JD102527 - Sequence 83551 from Patent EP1572962.
JD457672 - Sequence 438696 from Patent EP1572962.
JD526008 - Sequence 507032 from Patent EP1572962.
LF361054 - JP 2014500723-A/168557: Polycomb-Associated Non-Coding RNAs.
U44848 - Human nuclear respiratory factor 1 (NRF-1) mRNA, 3' UTR.
MA596625 - JP 2018138019-A/168551: Polycomb-Associated Non-Coding RNAs.
MA596626 - JP 2018138019-A/168552: Polycomb-Associated Non-Coding RNAs.
MA596627 - JP 2018138019-A/168553: Polycomb-Associated Non-Coding RNAs.
MA596628 - JP 2018138019-A/168554: Polycomb-Associated Non-Coding RNAs.
MA596629 - JP 2018138019-A/168555: Polycomb-Associated Non-Coding RNAs.
MA596630 - JP 2018138019-A/168556: Polycomb-Associated Non-Coding RNAs.
MA596631 - JP 2018138019-A/168557: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q16656 (Reactome details) participates in the following event(s):

R-HSA-1592236 NRF1:p-PPARGC1A, NRF2 bind the TFB1M promoter
R-HSA-1592245 NRF1:PPARGC1B binds the ALAS1 promoter
R-HSA-1592249 NRF1, PPRC1, NRF2 bind the TFAM promoter
R-HSA-1592250 NRF1, PPRC1:HCFC1:NRF2 bind the TFB1M promoter
R-HSA-2466367 NRF1, PPRC1:HCFC1:NRF2 bind the TFB2M promoter
R-HSA-2466369 NRF1:PPARGC1B binds the ATP5B promoter
R-HSA-2466370 NRF1:PPARGC1B binds the CYCS promoter
R-HSA-2466391 NRF1:p-PPARGC1A, NRF2 bind the TFAM promoter
R-HSA-2466392 NRF1:p-PPARGC1A, NRF2 bind the TFB2M promoter
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4C6, B4DDV6, ENST00000393232.1, ENST00000393232.2, ENST00000393232.3, ENST00000393232.4, ENST00000393232.5, NM_005011, NRF1_HUMAN, Q15305, Q16656, Q96AN2, uc318vrx.1, uc318vrx.2
UCSC ID: ENST00000393232.6_5
RefSeq Accession: NM_005011.5
Protein: Q16656 (aka NRF1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.