NR2F1 cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | NR2F1 |
| Entrez Gene ID | 7025 |
| Full Name | nuclear receptor subfamily 2 group F member 1 |
| Synonyms | BBOAS,BBSOAS,COUP-TFI,EAR-3,EAR3,ERBAL3,NR2F2,SVP44,TCFCOUP1,TFCOUP1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_005654.5 | NP_005645.1 | COUP transcription factor 1 |
| NM_005654.6 | NP_005645.1 | COUP transcription factor 1 |
| XM_017009797.1 | XP_016865286.1 | COUP transcription factor 1 isoform X1 |
| Homo sapiens (human) | NR2F1 | NP_005645.1 |
| Canis lupus familiaris (dog) | NR2F1 | XP_848884.2 |
| Rattus norvegicus (Norway rat) | Nr2f1 | NP_112392.1 |
| Mus musculus (house mouse) | Nr2f1 | NP_034281.2 |
| Danio rerio (zebrafish) | nr2f1a | NP_571255.1 |
| NR2F1 | XP_001089115.2 | |
| Bos taurus (cattle) | NR2F1 | NP_786998.1 |
| Caenorhabditis elegans (roundworm) | unc-55 | NP_001122482.2 |
| Pan troglodytes (chimpanzee) | NR2F1 | XP_517657.3 |
| Gallus gallus (chicken) | LOC100859519 | XP_004949459.1 |
| Xenopus tropicalis (tropical clawed frog) | nr2f1 | NP_001093677.1 |
Related articles in PubMed
Novel
Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D
Cold Spring Harbor molecular case studies3(6)(2017 Nov)
The Transcription Factors COUP-TFI and COUP-TFII have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon.
Alzu'bi A, Lindsay SJ, Harkin LF, McIntyre J, Lisgo SN, Clowry GJ
Cerebral cortex (New York, N.Y. : 1991)27(10)4971-4987(2017 Oct)
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C
Genetics in medicine : official journal of the American College of Medical Genetics18(11)1143-1150(2016 Nov)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)encompasses a broad range of clinical phenotypes. Functional studies help determine the severity of novel NR2F1 variants. Some genotype-phenotype correlations seem to exist, with missense mutations in the DNA-binding domain causing the most severe phenotypes
Title: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
COUP-TFII is expressed in a diverse subset of GABAergic interneurons predominantly innervating small dendritic shafts originating from both interneurons and pyramidal cells.
Title: Molecular and Electrophysiological Characterization of GABAergic Interneurons Expressing the Transcription Factor COUP-TFII in the Adult Human Temporal Cortex.
our mechanistic in vitro assays and in vivo results suggest that a reduction in chemokine CXCL12 expression, with an enhancement of CXCR4 expression, provoked by COUP-TFI, could be associated with an increase in the invasive potential of breast cancer
Title: COUP-TFI modifies CXCL12 and CXCR4 expression by activating EGF signaling and stimulates breast cancer cell migration.
NR2F1 has an important role in the development of the visual system and that haploinsuffiency can lead to optic atrophy with intellectual impairment.
Title: NR2F1 mutations cause optic atrophy with intellectual disability.
Interaction of NSD1 with the NR2E/F subfamily including COUP-TFI, COUP-TFII, EAR2 and TLX requires an F/YSXXLXXL/Y motif. Interactions of NSD1 with liganded NRs require an overlapping LXXLL motif.
Title: A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors.
The following NR2F1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the NR2F1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu23866 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_005654.5 , NM_005654.6 | |
| Accession Version | NM_005654.5 | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 1272bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2017-09-17 | |
| Organism | Homo sapiens(human) | |
| Product | COUP transcription factor 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC017493.1, AC106818.2 and AF087978.1. This sequence is a reference standard in the RefSeqGene project. On Apr 22, 2014 this sequence version replaced NM_005654.4. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC017493.1, SRR1660805.121230.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGGCAATGG TAGTTAGCAG CTGGCGAGAT CCGCAGGACG ACGTGGCCGG GGGCAACCCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_005645.1 |
| CDS | 1688..2959 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_005654.5 |
ORF Insert Sequence:
1 | ATGGCAATGG TAGTTAGCAG CTGGCGAGAT CCGCAGGACG ACGTGGCCGG GGGCAACCCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu23866 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_005654.5 , NM_005654.6 | |
| Accession Version | NM_005654.6 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 1272bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-08-21 | |
| Organism | Homo sapiens(human) | |
| Product | COUP transcription factor 1 | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC106818.2, BC017493.1 and AF087978.1. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_005654.5. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC017493.1, SRR3476690.165042.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000327111.8/ ENSP00000325819.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length. | |
1 | ATGGCAATGG TAGTTAGCAG CTGGCGAGAT CCGCAGGACG ACGTGGCCGG GGGCAACCCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_005645.1 |
| CDS | 1803..3074 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_005654.6 |
ORF Insert Sequence:
1 | ATGGCAATGG TAGTTAGCAG CTGGCGAGAT CCGCAGGACG ACGTGGCCGG GGGCAACCCC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu96037 | |
| Clone ID Related Accession (Same CDS sequence) | XM_017009797.1 | |
| Accession Version | XM_017009797.1 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 822bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-12-05 | |
| Organism | Homo sapiens(human) | |
| Product | COUP transcription factor 1 isoform X1 | |
| Comment | Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000005.10) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Updated annotation Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205 Annotation Version :: 109.20191205 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.3 Annotation Method :: Best-placed RefSeq; propagated RefSeq model Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## | |
1 | ATGTTTGGCT ACTCGGTTCA GCGAGGAAGA ATGCCTCCAA CCCAGCCCAA TCCAGGCCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | XP_016865286.1 |
| CDS | 131..952 |
| Translation |
Target ORF information:
Target ORF information:
|
XM_017009797.1 |
ORF Insert Sequence:
1 | ATGTTTGGCT ACTCGGTTCA GCGAGGAAGA ATGCCTCCAA CCCAGCCCAA TCCAGGCCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Novel |
|
The Transcription Factors COUP-TFI and COUP-TFII have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon. |
|
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. |