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This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
NR4A1 (Nuclear Receptor Subfamily 4 Group A Member 1) is a Protein Coding gene. Diseases associated with NR4A1 include Pseudohypoaldosteronism and Salivary Gland Carcinoma. Among its related pathways are Nur77 Signaling in T-Cell and RET signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NR4A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISS | -- |
GO:0003677 | DNA binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | GAB1 signalosome |
.89
|
|
3 | Aldosterone synthesis and secretion |
.41
|
|
4 | MAPK signaling pathway | ||
5 | Constitutive Signaling by AKT1 E17K in Cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001938 | positive regulation of endothelial cell proliferation | IMP | 18059339 |
GO:0002042 | cell migration involved in sprouting angiogenesis | IDA | 18059339 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0006915 | apoptotic process | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - |
ExUns: | 13c |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: | |
SP10: | |
SP11: | |
SP12: | |
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NR4A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NR4A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NR4A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nr4a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nr4a1 30 17 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NR4A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nr4a1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nr4a1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Hr38 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | nhr-6 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
734627 | Likely Benign: not provided | 52,056,107(+) | C/T | SYNONYMOUS_VARIANT | |
737337 | Benign: not provided | 52,054,400(+) | C/T | SYNONYMOUS_VARIANT | |
739666 | Likely Benign: not provided | 52,057,119(+) | C/T | SYNONYMOUS_VARIANT | |
739824 | Benign: not provided | 52,054,448(+) | C/T | SYNONYMOUS_VARIANT | |
742291 | Likely Benign: not provided | 52,055,099(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2629n54 | CNV | loss | 21841781 |
esv2656525 | CNV | deletion | 23128226 |
esv3549214 | CNV | deletion | 23714750 |
esv3629512 | CNV | loss | 21293372 |
esv3629513 | CNV | loss | 21293372 |
nsv1069668 | CNV | deletion | 25765185 |
nsv469378 | CNV | loss | 19166990 |
nsv518451 | CNV | loss | 19592680 |
nsv558898 | CNV | loss | 21841781 |
nsv832409 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pseudohypoaldosteronism |
|
|
salivary gland carcinoma |
|
|
salivary gland disease |
|
|
pyomyositis |
|
|
staphyloenterotoxemia |
|
|