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

Gene ID: 4899, updated on 11-Sep-2014
Official Symbol
NRF1provided by HGNC
Official Full Name
nuclear respiratory factor 1provided by HGNC
Primary source
HGNC:HGNC:7996
See related
Ensembl:ENSG00000106459; HPRD:02930; MIM:600879; Vega:OTTHUMG00000143736
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]
See NRF1 in Epigenomics, MapViewer
Location:
7q32
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (129611714..129757082)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129251555..129396922)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene striatin interacting protein 2 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 3 Neighboring gene small lysine-rich protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 244 Neighboring gene microRNA 182 Neighboring gene microRNA 96

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

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

  • Energy Metabolism, organism-specific biosystem (from WikiPathways)
    Energy Metabolism, organism-specific biosystemThe PPARGC1A protein is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with the nuclear receptor PPARG, which permits the interaction of ...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Mitochondrial Gene Expression, organism-specific biosystem (from WikiPathways)
    Mitochondrial Gene Expression, organism-specific biosystemNumerous nuclear-encoded genes co-ordinate the expression of genes encoded on the mitochondrial genome.
  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
    PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
  • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
    Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular lipid metabolic process TAS
Traceable Author Statement
more info
 
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
organ regeneration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to folic acid IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
nuclear respiratory factor 1
Names
nuclear respiratory factor 1
alpha palindromic-binding protein

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_001040110.1NP_001035199.1  nuclear respiratory factor 1 isoform 1

    See proteins identical to 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)
    AI816827, BC016925, BG742958, BM449724, BM993780, L22454
    Consensus CDS
    CCDS5813.2
    UniProtKB/TrEMBL
    A0A024R770
    UniProtKB/Swiss-Prot
    Q16656
    Related
    ENSP00000376922, OTTHUMP00000184914, ENST00000393230, OTTHUMT00000289813
    Conserved Domains (2) summary
    pfam10491
    Location:87284
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    pfam10492
    Location:450503
    Nrf1_activ_bdg; Nrf1 activator activation site binding domain
  2. NM_001293163.1NP_001280092.1  nuclear respiratory factor 1 isoform 2

    See proteins identical to 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
    Conserved Domains (2) summary
    pfam10491
    Location:87284
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    pfam10492
    Location:468522
    Nrf1_activ_bdg; Nrf1 activator activation site binding domain
  3. NM_001293164.1NP_001280093.1  nuclear respiratory factor 1 isoform 3

    See proteins identical to 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
    Conserved Domains (2) summary
    pfam10491
    Location:1123
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    pfam10492
    Location:289342
    Nrf1_activ_bdg; Nrf1 activator activation site binding domain
  4. NM_005011.4NP_005002.3  nuclear respiratory factor 1 isoform 1

    See proteins identical to 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/TrEMBL
    A0A024R770
    UniProtKB/Swiss-Prot
    Q16656
    Related
    ENSP00000376924, ENST00000393232
    Conserved Domains (2) summary
    pfam10491
    Location:87284
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    pfam10492
    Location:450503
    Nrf1_activ_bdg; Nrf1 activator activation site binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    129611714..129757082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    123613242..123758239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    129185036..129330325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)