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    Nrf1 nuclear respiratory factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 18181, updated on 3-Dec-2024

    Summary

    Official Symbol
    Nrf1provided by MGI
    Official Full Name
    nuclear respiratory factor 1provided by MGI
    Primary source
    MGI:MGI:1332235
    See related
    Ensembl:ENSMUSG00000058440 AllianceGenome:MGI:1332235
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D6Ertd415e
    Summary
    Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Acts upstream of or within mitochondrion organization. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in several structures, including branchial arch; connective tissue; genitourinary system; skeleton; and telencephalon. Human ortholog(s) of this gene implicated in Huntington's disease. Orthologous to human NRF1 (nuclear respiratory factor 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 7.3), CNS E11.5 (RPKM 6.0) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Nrf1 in Genome Data Viewer
    Location:
    6 A3.3; 6 12.47 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (30047984..30153462)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (30047985..30153458)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52897 Neighboring gene predicted gene, 31103 Neighboring gene small lysine rich protein 1, pseudogene Neighboring gene STARR-seq mESC enhancer starr_15453 Neighboring gene microRNA cluster 35, host gene Neighboring gene microRNA 182 Neighboring gene microRNA 96

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of transcription regulator complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    nuclear respiratory factor 1
    Names
    NRF-1
    alpha palindromic-binding protein
    alpha-pal

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001164226.2NP_001157698.1  nuclear respiratory factor 1 isoform a

      See identical proteins and their annotated locations for NP_001157698.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1, 6, 9, and 10 all encode the same isoform (a).
      Source sequence(s)
      AC134897, AC153632
      Consensus CDS
      CCDS19968.1
      UniProtKB/Swiss-Prot
      Q9CXE4, Q9WU00
      UniProtKB/TrEMBL
      Q8C4C0
      Related
      ENSMUSP00000110866.2, ENSMUST00000115211.8
      Conserved Domains (2) summary
      pfam10492
      Location:450493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    2. NM_001164227.2NP_001157699.1  nuclear respiratory factor 1 isoform b

      See identical proteins and their annotated locations for NP_001157699.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region which results in a frameshift and early stop codon, compared to variant 1. This results in a distinct and longer C-terminus in isoform b, compared to isoform a. Variants 2, 7, 13, and 14 all encode the same isoform (b).
      Source sequence(s)
      AC134897, AC153632
      Consensus CDS
      CCDS51741.1
      UniProtKB/TrEMBL
      Q8CAV3, Q99K73
      Related
      ENSMUSP00000110860.2, ENSMUST00000115206.8
      Conserved Domains (2) summary
      cd04867
      Location:450525
      TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    3. NM_001164228.2NP_001157700.1  nuclear respiratory factor 1 isoform c

      See identical proteins and their annotated locations for NP_001157700.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR, lacks a 3' coding exon, and contains an alternate exon in the 3' coding region which results in a frameshift and early stop codon, compared to variant 1. This results in a distinct and shorter C-terminus in isoform c, compared to isoform a.
      Source sequence(s)
      AC134897, AC153632
      Consensus CDS
      CCDS51742.1
      UniProtKB/TrEMBL
      D3Z3B4, G3XA39
      Related
      ENSMUSP00000110858.2, ENSMUST00000115204.8
      Conserved Domains (1) summary
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    4. NM_001164229.2NP_001157701.1  nuclear respiratory factor 1 isoform d

      See identical proteins and their annotated locations for NP_001157701.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, contains an alternate 5' coding exon, and contains an alternate exon in the 3' coding region which results in a frameshift and early stop codon, compared to variant 1. This results in a distinct and longer C-terminus in isoform d, compared to isoform a. Variants 4 and 15 both encode the same isoform (d).
      Source sequence(s)
      AC134897, AC153632
      Consensus CDS
      CCDS51739.1
      UniProtKB/TrEMBL
      Q3UXF4, Q3UYQ3
      Related
      ENSMUSP00000110853.2, ENSMUST00000115199.8
      Conserved Domains (1) summary
      pfam10491
      Location:87295
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    5. NM_001164230.2NP_001157702.1  nuclear respiratory factor 1 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR and contains an alternate exon in the 3' coding region which results in a frameshift and early stop codon, compared to variant 1. This results in a distinct and shorter C-terminus in isoform e, compared to isoform a. Variants 5 and 16 both encode the same isoform (e).
      Source sequence(s)
      AC134897, AC153632
      Consensus CDS
      CCDS51740.1
      UniProtKB/TrEMBL
      E9Q7X0, Q3UYQ3
      Related
      ENSMUSP00000110854.2, ENSMUST00000115200.8
      Conserved Domains (1) summary
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    6. NM_001361692.2NP_001348621.1  nuclear respiratory factor 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC153632
      Consensus CDS
      CCDS51741.1
      UniProtKB/TrEMBL
      Q8CAV3, Q99K73
      Conserved Domains (2) summary
      cd04867
      Location:450525
      TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    7. NM_001361693.2NP_001348622.1  nuclear respiratory factor 1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC153632
      UniProtKB/TrEMBL
      Q8C4C0
      Conserved Domains (2) summary
      pfam10492
      Location:462505
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87295
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    8. NM_001361694.2NP_001348623.1  nuclear respiratory factor 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC153632
      Consensus CDS
      CCDS19968.1
      UniProtKB/Swiss-Prot
      Q9CXE4, Q9WU00
      UniProtKB/TrEMBL
      Q8C4C0
      Conserved Domains (2) summary
      pfam10492
      Location:450493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    9. NM_001361695.2NP_001348624.1  nuclear respiratory factor 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC153632
      Consensus CDS
      CCDS19968.1
      UniProtKB/Swiss-Prot
      Q9CXE4, Q9WU00
      UniProtKB/TrEMBL
      Q8C4C0
      Conserved Domains (2) summary
      pfam10492
      Location:450493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    10. NM_001410221.1NP_001397150.1  nuclear respiratory factor 1 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      Q8CAV3
    11. NM_001410222.1NP_001397151.1  nuclear respiratory factor 1 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      Q8CAV3
    12. NM_001410223.1NP_001397152.1  nuclear respiratory factor 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      Q8CAV3, Q99K73
    13. NM_001410224.1NP_001397153.1  nuclear respiratory factor 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC153632
      UniProtKB/TrEMBL
      Q8CAV3, Q99K73
    14. NM_001410225.1NP_001397154.1  nuclear respiratory factor 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      Q3UXF4, Q3UYQ3
      Related
      ENSMUSP00000067447.9, ENSMUST00000069831.15
    15. NM_001410226.1NP_001397155.1  nuclear respiratory factor 1 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      E9Q7X0, Q3UYQ3
      Related
      ENSMUSP00000004761.7, ENSMUST00000004761.13
    16. NM_001410227.1NP_001397156.1  nuclear respiratory factor 1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      Q8C4C0
    17. NM_001410228.1NP_001397157.1  nuclear respiratory factor 1 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      Q8C4C0
    18. NM_001410229.1NP_001397158.1  nuclear respiratory factor 1 isoform h

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      D3Z3B4
    19. NM_001410230.1NP_001397159.1  nuclear respiratory factor 1 isoform h

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      D3Z3B4
    20. NM_001410231.1NP_001397160.1  nuclear respiratory factor 1 isoform i

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      D3Z3B4
      Related
      ENSMUSP00000110863.2, ENSMUST00000115208.8
    21. NM_001410232.1NP_001397161.1  nuclear respiratory factor 1 isoform j

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      D3Z3B4
    22. NM_001410233.1NP_001397162.1  nuclear respiratory factor 1 isoform j

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      D3Z3B4
    23. NM_001410234.1NP_001397163.1  nuclear respiratory factor 1 isoform k

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      D3Z3B4
    24. NM_001410235.1NP_001397164.1  nuclear respiratory factor 1 isoform k

      Status: VALIDATED

      Source sequence(s)
      AC134897, AC153632
      UniProtKB/TrEMBL
      D3Z3B4
    25. NM_010938.5NP_035068.3  nuclear respiratory factor 1 isoform a

      See identical proteins and their annotated locations for NP_035068.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 6, 9, and 10 all encode the same isoform (a).
      Source sequence(s)
      AC134897, AC153632
      Consensus CDS
      CCDS19968.1
      UniProtKB/Swiss-Prot
      Q9CXE4, Q9WU00
      UniProtKB/TrEMBL
      Q8C4C0
      Related
      ENSMUSP00000110867.2, ENSMUST00000115212.8
      Conserved Domains (2) summary
      pfam10492
      Location:450493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      30047984..30153462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030255218.2XP_030111078.1  nuclear respiratory factor 1 isoform X4

      UniProtKB/Swiss-Prot
      Q9CXE4, Q9WU00
      UniProtKB/TrEMBL
      Q8C4C0
      Conserved Domains (2) summary
      pfam10492
      Location:450493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    2. XM_017321441.3XP_017176930.1  nuclear respiratory factor 1 isoform X2

      UniProtKB/TrEMBL
      Q8CAV3, Q99K73
      Conserved Domains (2) summary
      cd04867
      Location:450525
      TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    3. XM_030255217.2XP_030111077.1  nuclear respiratory factor 1 isoform X2

      UniProtKB/TrEMBL
      Q8CAV3, Q99K73
      Related
      ENSMUSP00000065568.7, ENSMUST00000069808.13
      Conserved Domains (2) summary
      cd04867
      Location:450525
      TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    4. XM_017321440.3XP_017176929.1  nuclear respiratory factor 1 isoform X1

      UniProtKB/TrEMBL
      Q8CAV3
      Conserved Domains (2) summary
      cd04867
      Location:462537
      TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins
      pfam10491
      Location:87295
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    5. XM_011241046.4XP_011239348.1  nuclear respiratory factor 1 isoform X1

      See identical proteins and their annotated locations for XP_011239348.1

      UniProtKB/TrEMBL
      Q8CAV3
      Conserved Domains (2) summary
      cd04867
      Location:462537
      TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins
      pfam10491
      Location:87295
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1