NR2F1 - nuclear receptor subfamily 2 group F member 1 Gene
Also Known as EAR3; BBOAS; EAR-3; SVP44; BBSOAS; ERBAL3; COUPTF1; TFCOUP1; COUP-TFI; TCFCOUP1
Species: Homo sapiens
About NR2F1
This gene has 7 transcripts (splice variants), 235 orthologues, 11 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 21.7), ovary (RPKM 21.4) and 21 other tissues.
Summary
The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
NR2F1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001410754.1 | NP_001397683.1 | COUP transcription factor 1 isoform 2 |
| NM_005654.6 | NP_005645.1 | COUP transcription factor 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor activity |
IDA
IDA: Inferred from direct assay
|
10644740 | GOA |
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
10644740 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
10644740 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
1517211 | GOA |
| enables sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
10644740 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
10644740 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10644740 | GOA |
NR2F1 Protein Structure
zf-C4: Zinc finger, C4 type (two domains) (85 - 153)
Hormone_recep: Ligand-binding domain of nuclear hormone receptor (205 - 393)
- 0
- 100
- 200
- 300
- 400
- 423 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
COUP transcription factor 1 |
|
NR2F1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82577 | COUP TF1 Antibody (YA2322) | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
| HY-P82577A | COUP TF1 Antibody (YA2322)(PBS only) | WB, IHC-P, ICC/IF, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
|
| Cerebral Visual Impairment |
|
|
| Adrenal Cortical Adenoma |
|
|
| Diaphragm Disease |
|
|
| Diaphragmatic Hernia, Congenital |
|
|
| Atrioventricular Septal Defect |
|
|
| 46,Xy Sex Reversal |
|
|
| Tetralogy Of Fallot |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | NR2F1 | VGNC | VGNC:75512 |
| Mus musculus | NR2F1 | MGD | MGI:1352451 |
| Rattus norvegicus | NR2F1 | RGD | RGD:621682 |
| Bos taurus | NR2F1 | VGNC | VGNC:32240 |
| Felis catus | NR2F1 | VGNC | VGNC:102269 |
| Others | NR2F1 | NCBI |