U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 7025, updated on 7-Jul-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NR2F1 in Genome Data Viewer
    Location:
    5q15
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (93583222..93594611)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (94067283..94078673)
    105.20220307 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 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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    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

    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)

    NEW Try the new Transcript table

    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_001410754.1NP_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_005654.6NP_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:184419
      NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family
      cd06958
      Location:86158
      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_2023_10

    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)