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

Gene ID: 4899, updated on 20-Nov-2022

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; 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

See NRF1 in Genome Data Viewer
Location:
7q32.2
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (129611720..129757076)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130924847..131070183)
105.20220307 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 RNA, U1 small nuclear 72, pseudogene Neighboring gene small lysine rich protein 1 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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
PubMed 
located_in 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)

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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_001040110.2NP_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
    Q16656, Q96AN2
    UniProtKB/TrEMBL
    A0A024R770
    Related
    ENSP00000376922.2, ENST00000393230.6
    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_001293163.2NP_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, ENST00000311967.6
    Conserved Domains (2) summary
    pfam10492
    Location:468512
    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
  3. NM_001293164.2NP_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 dimerization domains of Nrf1
  4. NM_005011.5NP_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, Q96AN2
    UniProtKB/TrEMBL
    A0A024R770
    Related
    ENSP00000376924.1, ENST00000393232.6
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)