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

Gene ID: 4899, updated on 12-Aug-2018

Summary

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; 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]
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

Genomic context

See NRF1 in Genome Data Viewer
Location:
7q32.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (129611702..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 uncharacterized LOC107986848 Neighboring gene small lysine rich protein 1 Neighboring gene uncharacterized LOC105375501 Neighboring gene RNA, 5S ribosomal pseudogene 244 Neighboring gene microRNA 182

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

  • Apelin signaling pathway, organism-specific biosystem (from KEGG)
    Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
  • 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 ...
  • Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway, organism-specific biosystem (from WikiPathways)
    Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway, organism-specific biosystemThis pathway Involved in chemo-resistance of cells in bladder cancer begins with LOXL2 activation of CDC37 and COL2A1. COL2A1 activates the complex NRF1/2 and two other complexes that trigger RTK/MAP...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
generation of precursor metabolites and energy TAS
Traceable Author Statement
more info
PubMed 
mitochondrion organization TAS
Traceable Author Statement
more info
 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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 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)
    AI816827, BC016925, BG742958, BM449724, BM993780, L22454
    Consensus CDS
    CCDS5813.2
    UniProtKB/Swiss-Prot
    Q16656
    UniProtKB/TrEMBL
    A0A024R770
    Related
    ENSP00000376922.2, OTTHUMP00000184914, ENST00000393230.6, OTTHUMT00000289813
    Conserved Domains (2) summary
    pfam10491
    Location:87283
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerisation domains of Nrf1
    pfam10492
    Location:450493
    Nrf1_activ_bdg; Nrf1 activator activation site binding domain
  2. NM_001293163.1NP_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
    UniProtKB/Swiss-Prot
    Q16656
    UniProtKB/TrEMBL
    A0A024R774
    Related
    ENSP00000309826.2, OTTHUMP00000184913, ENST00000311967.6, OTTHUMT00000289812
    Conserved Domains (2) summary
    pfam10491
    Location:87283
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerisation domains of Nrf1
    pfam10492
    Location:468512
    Nrf1_activ_bdg; Nrf1 activator activation site binding domain
  3. NM_001293164.1NP_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:1122
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerisation domains of Nrf1
  4. NM_005011.4NP_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
    Q16656
    UniProtKB/TrEMBL
    A0A024R770
    Related
    ENSP00000376924.1, ENST00000393232.5
    Conserved Domains (2) summary
    pfam10491
    Location:87283
    Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerisation domains of Nrf1
    pfam10492
    Location:450493
    Nrf1_activ_bdg; Nrf1 activator activation site binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    129611702..129757082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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