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

    Gene ID: 7025, updated on 9-Jun-2016
    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 HPRD:00584; MIM:132890; Vega:OTTHUMG00000119079
    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; NR2F2; SVP44; BBSOAS; ERBAL3; 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]
    Orthologs
    Location:
    5q14
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (93583337..93594613)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (92919043..92930319)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene polymerase (DNA) delta 2, accessory subunit pseudogene 1 Neighboring gene NR2F1 antisense RNA 1 Neighboring gene family with sequence similarity 172 member A Neighboring gene microRNA 2277 Neighboring gene nucleophosmin 1 pseudogene 27

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Bosch-Boonstra-Schaaf optic atrophy syndrome
    MedGen: C3810363 OMIM: 615722 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2015-03-12)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2015-03-12)

    ClinGen Genome Curation Page

    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

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
      Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
    • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
      Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    steroid hormone receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    nuclear receptor subfamily 2, group F, member 1
    transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3)

    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
      5001..16275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005654.5NP_005645.1  COUP transcription factor 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
      Related
      ENSP00000325819, OTTHUMP00000147621, ENST00000327111, OTTHUMT00000239293
      Conserved Domains (3) 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
      pfam01391
      Location:4776
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      93583337..93594613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009797.1XP_016865286.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      92351749..92363018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)