Format

Send to:

Choose Destination

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

Gene ID: 7025, updated on 12-Aug-2018

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; 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; 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

Genomic context

See NR2F1 in Genome Data Viewer
Location:
5q15
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 VISTA enhancer hs1172 Neighboring gene NR2F1 antisense RNA 1 Neighboring gene VISTA enhancer hs546 Neighboring gene family with sequence similarity 172 member A Neighboring gene microRNA 2277 Neighboring gene nucleophosmin 1 pseudogene 27

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

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 BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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
    ENSP00000325819.3, OTTHUMP00000147621, ENST00000327111.7, OTTHUMT00000239293
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017009797.1XP_016865286.1  COUP transcription factor 1 isoform X1

    Conserved Domains (1) summary
    cd06948
    Location:34269
    NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family
Support Center