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    NR2F1 nuclear receptor subfamily 2 group F member 1 [ Homo sapiens (human) ]

    Gene ID: 7025, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NR2F1provided by HGNC
    Official Full Name
    nuclear receptor subfamily 2 group F member 1provided by HGNC
    Primary source
    HGNC:HGNC:7975
    See related
    Ensembl:ENSG00000175745 MIM:132890; AllianceGenome:HGNC:7975
    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
    EAR3; BBOAS; EAR-3; SVP44; BBSOAS; ERBAL3; COUPTF1; TFCOUP1; COUP-TFI; TCFCOUP1
    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]
    Expression
    Broad expression in placenta (RPKM 21.7), ovary (RPKM 21.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NR2F1 in Genome Data Viewer
    Location:
    5q15
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (93583222..93594611)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (94067283..94078673)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (92918928..92930317)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1060 Neighboring gene VISTA enhancer hs1172 Neighboring gene DNA polymerase delta 2, accessory subunit pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:92694967-92696166 Neighboring gene Sharpr-MPRA regulatory region 8230 Neighboring gene NR2F1 regulatory antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:92792425-92792926 Neighboring gene VISTA enhancer hs546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:92840906-92841406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16175 Neighboring gene uncharacterized LOC124901026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:92931735-92932535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:92932536-92933335 Neighboring gene uncharacterized LOC124901027 Neighboring gene NANOG hESC enhancer GRCh37_chr5:92935096-92935597 Neighboring gene Sharpr-MPRA regulatory region 13970 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:92953840-92954648 Neighboring gene microRNA 2277 Neighboring gene ARB2 cotranscriptional regulator A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Chen CA, et al. Genet Med, 2016 Nov. PMID 26986877
    2. NR2F1 contributes to cancer cell dormancy, invasion and metastasis of salivary adenoid cystic carcinoma by activating CXCL12/CXCR4 pathway. Gao XL, et al. BMC Cancer, 2019 Jul 29. PMID 31357956, Free PMC Article
    3. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Al-Kateb H, et al. Am J Med Genet A, 2013 Feb. PMID 23300014
    4. NR2F1 stratifies dormant disseminated tumor cells in breast cancer patients. Borgen E, et al. Breast Cancer Res, 2018 Oct 16. PMID 30322396, Free PMC Article
    5. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. Bojanek EK, et al. Am J Med Genet A, 2020 Jan. PMID 31729143, Free PMC Article

    See all (97) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NR2F1 overexpression alleviates trophoblast cell dysfunction by inhibiting GDF15/MAPK axis in preeclampsia.
      Title: NR2F1 overexpression alleviates trophoblast cell dysfunction by inhibiting GDF15/MAPK axis in preeclampsia.
    2. PTEN decreases NR2F1 expression to inhibit ciliogenesis during EGFR[L858R]-induced lung cancer progression.
      Title: PTEN decreases NR2F1 expression to inhibit ciliogenesis during EGFR(L858R)-induced lung cancer progression.
    3. Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
      Title: Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
    4. Spatial control of astrogenesis progression by cortical arealization genes.
      Title: Spatial control of astrogenesis progression by cortical arealization genes.
    5. METTL3 inhibits inflammation of retinal pigment epithelium cells by regulating NR2F1 in an m(6)A-dependent manner.
      Title: METTL3 inhibits inflammation of retinal pigment epithelium cells by regulating NR2F1 in an m(6)A-dependent manner.
    6. Metabolic Switch Under Glucose Deprivation Leading to Discovery of NR2F1 as a Stimulus of Osteoblast Differentiation.
      Title: Metabolic Switch Under Glucose Deprivation Leading to Discovery of NR2F1 as a Stimulus of Osteoblast Differentiation.
    7. NR2F1 Is a Barrier to Dissemination of Early-Stage Breast Cancer Cells.
      Title: NR2F1 Is a Barrier to Dissemination of Early-Stage Breast Cancer Cells.
    8. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
      Title: NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
    9. Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression.
      Title: Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression.
    10. The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1.
      Title: The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-08-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-08-09)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of nuclear receptor subfamily 2, group F, member 1 (NR2F1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Through amino acids 49-148, COUP-TF physically interacts with amino acids 48-72 of HIV-1 Tat, allowing COUP-TF to cooperate with Tat during transactivation of the HIV-1 LTR promoter PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables retinoic acid-responsive element binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    COUP transcription factor 1
    Names
    COUP transcription factor I
    COUP-TF I
    COUP-TF1
    V-erbA-related protein 3
    chicken ovalbumin upstream promoter-transcription factor I
    transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3)

    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.

    Genomic

    1. NG_034119.1 RefSeqGene

      Range
      4886..16275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001410754.1 → NP_001397683.1  COUP transcription factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC106818
      Consensus CDS
      CCDS93743.1
      UniProtKB/TrEMBL
      A0A8V8TQQ6
      Related
      ENSP00000514863.1, ENST00000512697.2

    2. NM_005654.6 → NP_005645.1  COUP transcription factor 1 isoform 1

      See identical proteins and their annotated locations for NP_005645.1

      Status: REVIEWED

      Source sequence(s)
      AC106818, AF087978, BC017493
      Consensus CDS
      CCDS4068.1
      UniProtKB/Swiss-Prot
      P10589
      UniProtKB/TrEMBL
      F1DAL6
      Related
      ENSP00000325819.3, ENST00000327111.8
      Conserved Domains (2) summary
      cd06948
      Location:184 → 419
      NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family
      cd06958
      Location:86 → 158
      NR_DBD_COUP_TF; DNA-binding domain of chicken ovalbumin upstream promoter transcription factors (COUP-TFs) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      93583222..93594611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      94067283..94078673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10589.1 GenPept UniProtKB/Swiss-Prot:P10589

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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