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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]
NRF1 (Nuclear Respiratory Factor 1) is a Protein Coding gene. Diseases associated with NRF1 include Skin Carcinoma In Situ and Oncocytoma. Among its related pathways are Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 19674972 |
GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IDA | 23525105 |
GO:0001046 | core promoter sequence-specific DNA binding | IBA,ISS | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IMP | 19674972 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
2 | Mitochondrial Gene Expression | ||
3 | Metabolism |
.40
|
|
4 | Glucose / Energy Metabolism | ||
5 | Apelin signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006091 | generation of precursor metabolites and energy | TAS | 7629110 |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS,IBA | 21873635 |
GO:0007005 | mitochondrion organization | TAS | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IMP | 19674972 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 | ||
heme | Pharma | Agonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NRF1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NRF1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NRF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NRF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nrf1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nrf1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NRF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | F 31 |
|
OneToOne | |
NRF1 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | NRF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nrf1 30 |
|
||
Str.3769 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.3115 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nrf1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | ewg 31 32 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
722654 | Benign: not provided | 129,657,483(+) | G/A | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
779428 | Benign: not provided | 129,671,445(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
782028 | Benign: not provided | 129,727,250(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv23078 | CNV | gain | 19812545 |
esv2674051 | CNV | deletion | 23128226 |
esv3542421 | CNV | deletion | 23714750 |
esv3615004 | CNV | loss | 21293372 |
esv3615005 | CNV | gain | 21293372 |
nsv474317 | CNV | novel sequence insertion | 20440878 |
nsv516024 | CNV | gain+loss | 19592680 |
nsv5948 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
skin carcinoma in situ |
|
|
oncocytoma |
|
|
spastic entropion |
|
|
cicatricial entropion |
|
|
mitochondrial metabolism disease |
|