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NRF1 nuclear respiratory factor 1 [ Homo sapiens (human) ]

Gene ID: 4899, updated on 2-Nov-2024

Summary

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Official Symbol
NRF1provided by HGNC
Official Full Name
nuclear respiratory factor 1provided by HGNC
Primary source
HGNC:HGNC:7996
See related
Ensembl:ENSG00000106459 MIM:600879; AllianceGenome:HGNC:7996
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALPHA-PAL
Summary
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]
Annotation information
Note: NRF1 (Gene ID: 4899) and NFE2L1 (Gene ID: 4779) share the NRF1 symbol/alias in common. NRF1 is a widely used alternative name for nuclear factor, erythroid 2 like 1 (NFE2L1), which can be confused with the official symbol for nuclear respiratory factor 1 (NRF1). [05 Jul 2018]
Expression
Ubiquitous expression in ovary (RPKM 7.4), lymph node (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

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See NRF1 in Genome Data Viewer
Location:
7q32.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (129611720..129757076)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130924847..131070183)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129251561..129396916)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene striatin interacting protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18630 Neighboring gene RNA, U1 small nuclear 72, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129166309-129166810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129173685-129174202 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129174203-129174720 Neighboring gene small lysine rich protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129201761-129202261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26632 Neighboring gene Sharpr-MPRA regulatory region 6855 Neighboring gene uncharacterized LOC105375501 Neighboring gene RNA, 5S ribosomal pseudogene 244 Neighboring gene microRNA 182

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The positive regulation loop between NRF1 and NONO-TFE3 fusion promotes phase separation and aggregation of NONO-TFE3 in NONO-TFE3 tRCC. Wang B, et al. Int J Biol Macromol, 2021 Apr 15. PMID 33592266
  2. Skeletal muscle overexpression of nuclear respiratory factor 1 increases glucose transport capacity. Baar K, et al. FASEB J, 2003 Sep. PMID 12958173
  3. In vitro methylation of nuclear respiratory factor-1 binding site suppresses the promoter activity of mitochondrial transcription factor A. Choi YS, et al. Biochem Biophys Res Commun, 2004 Jan 30. PMID 14715254
  4. Nuclear respiratory factor 1 transcriptomic signatures as prognostic indicators of recurring aggressive mesenchymal glioblastoma and resistance to therapy in White American females. Bhawe K, et al. J Cancer Res Clin Oncol, 2022 Jul. PMID 35441887
  5. Nuclear respiratory factor 1 plays an essential role in transcriptional initiation from the hepatitis B virus x gene promoter. Tokusumi Y, et al. J Virol, 2004 Oct. PMID 15452206, Free PMC Article

See all (162) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nrf2/Keap1/ARE regulation by plant secondary metabolites: a new horizon in brain tumor management.
    Title: Nrf2/Keap1/ARE regulation by plant secondary metabolites: a new horizon in brain tumor management.
  2. Inhibitor of DNA Binding Protein 3 (ID3) and Nuclear Respiratory Factor 1 (NRF1) Mediated Transcriptional Gene Signatures are Associated with the Severity of Cerebral Amyloid Angiopathy.
    Title: Inhibitor of DNA Binding Protein 3 (ID3) and Nuclear Respiratory Factor 1 (NRF1) Mediated Transcriptional Gene Signatures are Associated with the Severity of Cerebral Amyloid Angiopathy.
  3. Molecular mechanism of specific DNA sequence recognition by NRF1.
    Title: Molecular mechanism of specific DNA sequence recognition by NRF1.
  4. NRF1 promotes primordial germ cell development, proliferation and survival.
    Title: NRF1 promotes primordial germ cell development, proliferation and survival.
  5. NRF1 knockdown alleviates lipopolysaccharide-induced pulmonary inflammatory injury by upregulating DKK3 and inhibiting the GSK-3beta/beta-catenin pathway.
    Title: NRF1 knockdown alleviates lipopolysaccharide-induced pulmonary inflammatory injury by upregulating DKK3 and inhibiting the GSK-3β/β-catenin pathway.
  6. NRF1 Alleviated Oxidative Stress of Glioblastoma Cells by Regulating NOR1.
    Title: NRF1 Alleviated Oxidative Stress of Glioblastoma Cells by Regulating NOR1.
  7. Nuclear respiratory factor 1 drives hepatocellular carcinoma progression by activating LPCAT1-ERK1/2-CREB axis.
    Title: Nuclear respiratory factor 1 drives hepatocellular carcinoma progression by activating LPCAT1-ERK1/2-CREB axis.
  8. The Regulatory Role of Nuclear Respiratory Factor 1 in Bladder Cancer Cells.
    Title: The Regulatory Role of Nuclear Respiratory Factor 1 in Bladder Cancer Cells.
  9. The N[6]-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity.
    Title: The N(6)-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity.
  10. UBE4A catalyzes NRF1 ubiquitination and facilitates DDI2-mediated NRF1 cleavage.
    Title: UBE4A catalyzes NRF1 ubiquitination and facilitates DDI2-mediated NRF1 cleavage.
Submit: New GeneRIF Correction See all GeneRIFs (81)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of nuclear respiratory factor 1 (NRF1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
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 IDA
Inferred from Direct Assay
more info
 PubMed 
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
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in extracellular exosome HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
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
  

General protein information

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

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)

  1. NM_001040110.2 → NP_001035199.1  nuclear respiratory factor 1 isoform 1

    See identical proteins and their annotated locations for NP_001035199.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded protein (isoform 1) is shorter, compared to isoform 2. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC078846, AI816827, BC016925, BG742958, BM449724, BM993780, L22454
    Consensus CDS
    CCDS5813.2
    UniProtKB/Swiss-Prot
    A8K4C6, B4DDV6, Q15305, Q16656, Q96AN2
    Related
    ENSP00000376922.2, ENST00000393230.6
    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

  2. NM_001293163.2 → NP_001280092.1  nuclear respiratory factor 1 isoform 2

    See identical proteins and their annotated locations for NP_001280092.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AC084864, BC016925, BM993780, HY166547
    Consensus CDS
    CCDS78273.1
    Related
    ENSP00000309826.2, ENST00000311967.6
    Conserved Domains (2) summary
    pfam10492
    Location:468 → 512
    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

  3. NM_001293164.2 → NP_001280093.1  nuclear respiratory factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001280093.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the coding region, and initiates translation at a downstream start codon, compared to variant 3. The encoded protein (isoform 3) is shorter, compared to isoform 2.
    Source sequence(s)
    AC084864, AK290891, AK293351, BC016925, BM993780, HY166547
    UniProtKB/Swiss-Prot
    Q16656
    Conserved Domains (1) summary
    pfam10491
    Location:1 → 122
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1

  4. NM_005011.5 → NP_005002.3  nuclear respiratory factor 1 isoform 1

    See identical proteins and their annotated locations for NP_005002.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded protein (isoform 1) is shorter, compared to isoform 2. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC084864, AK290891, AK293351, BM993780, HY166547
    Consensus CDS
    CCDS5813.2
    UniProtKB/Swiss-Prot
    A8K4C6, B4DDV6, Q15305, Q16656, Q96AN2
    Related
    ENSP00000376924.1, ENST00000393232.6
    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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    129611720..129757076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    130924847..131070183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16656.1 GenPept UniProtKB/Swiss-Prot:Q16656

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