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

Gene ID: 18181, updated on 11-Apr-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 and RNA polymerase II cis-regulatory region sequence-specific DNA binding 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; otic capsule; and skeleton. 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, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 7.3), CNS E11.5 (RPKM 6.0) and 28 other tissues See more
Orthologs
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Genomic context

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 smal 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (4) 

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
 
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
  11. NM_001410222.1NP_001397151.1  nuclear respiratory factor 1 isoform g

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC134897, AC153632
    UniProtKB/TrEMBL
    Q3UXF4
    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
    Related
    ENSMUSP00000004761.7, ENSMUST00000004761.13
  16. NM_001410227.1NP_001397156.1  nuclear respiratory factor 1 isoform f

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AC134897, AC153632
  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