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

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: human all
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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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Macrophage NRF1 promotes mitochondrial protein turnover via the ubiquitin proteasome system to limit mitochondrial stress and inflammation.
Title: Macrophage NRF1 promotes mitochondrial protein turnover via the ubiquitin proteasome system to limit mitochondrial stress and inflammation.
Protective Effects of Hepatocyte Stress Defenders, Nrf1 and Nrf2, against MASLD Progression.
Title: Protective Effects of Hepatocyte Stress Defenders, Nrf1 and Nrf2, against MASLD Progression.
NRF1 mitigates motor dysfunction and dopamine neuron degeneration in mice with Parkinson's disease by promoting GLRX m[6] A methylation through upregulation of METTL3 transcription.
Title: NRF1 mitigates motor dysfunction and dopamine neuron degeneration in mice with Parkinson's disease by promoting GLRX m(6) A methylation through upregulation of METTL3 transcription.
Single-nucleus RNA-sequencing reveals NRF1/NFE2L1 as a key factor determining the thermogenesis and cellular heterogeneity and dynamics of brown adipose tissues in mice.
Title: Single-nucleus RNA-sequencing reveals NRF1/NFE2L1 as a key factor determining the thermogenesis and cellular heterogeneity and dynamics of brown adipose tissues in mice.
Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload.
Title: Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload.
miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes.
Title: miR-5581 Contributes to Osteoarthritis by Targeting NRF1 to Disturb the Proliferation and Functions of Chondrocytes.
Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice.
Title: Hypoadiponectinemia-induced upregulation of microRNA449b downregulating Nrf-1 aggravates cardiac ischemia-reperfusion injury in diabetic mice.
NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity.
Title: NRF1-mediated mitochondrial biogenesis antagonizes innate antiviral immunity.
Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2.
Title: Euglycemia is affected by stress defense factor hepatocyte NRF1, but not NRF2.
NRF1-mediated microglial activation triggers high-altitude cerebral edema.
Title: NRF1-mediated microglial activation triggers high-altitude cerebral edema.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127210 (e-PCR)
- UniSTS:167487

Nrf1 (e-PCR), detects polymorphism
- UniSTS:496724

C87038 (e-PCR)
- UniSTS:179355

PMC97559P1 (e-PCR)
- UniSTS:273651

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	ISO Inferred from Sequence Orthology more info

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

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Preferred Names: nuclear respiratory factor 1

Names: NRF-1; alpha palindromic-binding protein; alpha-pal

NCBI Reference Sequences (RefSeq)

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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)

NM_001164226.2 → NP_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:450 → 493

Nrf1_activ_bdg; Nrf1 activator activation site binding domain

pfam10491
Location:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001164227.2 → NP_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:450 → 525

TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins

pfam10491
Location:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001164228.2 → NP_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:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001164229.2 → NP_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:87 → 295

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001164230.2 → NP_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:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001361692.2 → NP_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:450 → 525

TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins

pfam10491
Location:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001361693.2 → NP_001348622.1 nuclear respiratory factor 1 isoform f

Status: VALIDATED

Source sequence(s)

AC153632

UniProtKB/TrEMBL

Q8C4C0

Conserved Domains (2) summary

pfam10492
Location:462 → 505

Nrf1_activ_bdg; Nrf1 activator activation site binding domain

pfam10491
Location:87 → 295

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001361694.2 → NP_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:450 → 493

Nrf1_activ_bdg; Nrf1 activator activation site binding domain

pfam10491
Location:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001361695.2 → NP_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:450 → 493

Nrf1_activ_bdg; Nrf1 activator activation site binding domain

pfam10491
Location:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
NM_001410221.1 → NP_001397150.1 nuclear respiratory factor 1 isoform g

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410222.1 → NP_001397151.1 nuclear respiratory factor 1 isoform g

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410223.1 → NP_001397152.1 nuclear respiratory factor 1 isoform b

Status: VALIDATED

Source sequence(s)

AC134897, AC153632

UniProtKB/TrEMBL

Q99K73
NM_001410224.1 → NP_001397153.1 nuclear respiratory factor 1 isoform b

Status: VALIDATED

Source sequence(s)

AC153632

UniProtKB/TrEMBL

Q99K73
NM_001410225.1 → NP_001397154.1 nuclear respiratory factor 1 isoform d

Status: VALIDATED

Source sequence(s)

AC134897, AC153632

UniProtKB/TrEMBL

Q3UXF4

Related

ENSMUSP00000067447.9, ENSMUST00000069831.15
NM_001410226.1 → NP_001397155.1 nuclear respiratory factor 1 isoform e

Status: VALIDATED

Source sequence(s)

AC134897, AC153632

UniProtKB/TrEMBL

E9Q7X0

Related

ENSMUSP00000004761.7, ENSMUST00000004761.13
NM_001410227.1 → NP_001397156.1 nuclear respiratory factor 1 isoform f

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410228.1 → NP_001397157.1 nuclear respiratory factor 1 isoform f

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410229.1 → NP_001397158.1 nuclear respiratory factor 1 isoform h

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410230.1 → NP_001397159.1 nuclear respiratory factor 1 isoform h

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410231.1 → NP_001397160.1 nuclear respiratory factor 1 isoform i

Status: VALIDATED

Source sequence(s)

AC134897, AC153632

Related

ENSMUSP00000110863.2, ENSMUST00000115208.8
NM_001410232.1 → NP_001397161.1 nuclear respiratory factor 1 isoform j

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410233.1 → NP_001397162.1 nuclear respiratory factor 1 isoform j

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410234.1 → NP_001397163.1 nuclear respiratory factor 1 isoform k

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_001410235.1 → NP_001397164.1 nuclear respiratory factor 1 isoform k

Status: VALIDATED

Source sequence(s)

AC134897, AC153632
NM_010938.5 → NP_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:450 → 493

Nrf1_activ_bdg; Nrf1 activator activation site binding domain

pfam10491
Location:87 → 283

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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

30047984..30153462

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q9CXE4, Q9WU00

UniProtKB/TrEMBL

Q8C4C0

Conserved Domains (2) summary

pfam10492
Location:450 → 493

Nrf1_activ_bdg; Nrf1 activator activation site binding domain

pfam10491
Location:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
XM_017321441.3 → XP_017176930.1 nuclear respiratory factor 1 isoform X2

UniProtKB/TrEMBL

Q8CAV3, Q99K73

Conserved Domains (2) summary

cd04867
Location:450 → 525

TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins

pfam10491
Location:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
XM_030255217.2 → XP_030111077.1 nuclear respiratory factor 1 isoform X2

UniProtKB/TrEMBL

Q8CAV3, Q99K73

Related

ENSMUSP00000065568.7, ENSMUST00000069808.13

Conserved Domains (2) summary

cd04867
Location:450 → 525

TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins

pfam10491
Location:87 → 283

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
XM_017321440.3 → XP_017176929.1 nuclear respiratory factor 1 isoform X1

UniProtKB/TrEMBL

Q8CAV3

Conserved Domains (2) summary

cd04867
Location:462 → 537

TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins

pfam10491
Location:87 → 295

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
XM_011241046.4 → XP_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:462 → 537

TGS_YchF_OLA1; TGS (ThrRS, GTPase and SpoT) domain found in the YchF/OLA1 family proteins

pfam10491
Location:87 → 295

Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1