NR2F1
COUP transcription factor 1
Also known as: COT1_HUMAN, COUP-TFI, COUPTF1, EAR-3, ERBAL3, SVP44, TCFCOUP1, TFCOUP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P10589
- Gene
- NR2F1
- Ensembl
- ENSG00000175745
- Chromosome
- 5
- Canonical length
- 423 aa
- Protein class
- Disease related genes, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
423 residues, UniProt reviewed canonical sequence.
>P10589|NR2F1
1 MAMVVSSWRD PQDDVAGGNP GGPNPAAQAA RGGGGGAGEQ QQQAGSGAPH TPQTPGQPGA
61 PATPGTAGDK GQGPPGSGQS QQHIECVVCG DKSSGKHYGQ FTCEGCKSFF KRSVRRNLTY
121 TCRANRNCPI DQHHRNQCQY CRLKKCLKVG MRREAVQRGR MPPTQPNPGQ YALTNGDPLN
181 GHCYLSGYIS LLLRAEPYPT SRYGSQCMQP NNIMGIENIC ELAARLLFSA VEWARNIPFF
241 PDLQITDQVS LLRLTWSELF VLNAAQCSMP LHVAPLLAAA GLHASPMSAD RVVAFMDHIR
301 IFQEQVEKLK ALHVDSAEYS CLKAIVLFTS DACGLSDAAH IESLQEKSQC ALEEYVRSQY
361 PNQPSRFGKL LLRLPSLRTV SSSVIEQLFF VRLVGKTPIE TLIRDMLLSG SSFNWPYMSI
421 QCSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NR2F1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 78 nTPM
Expression across tissuesHPA
Tissue
- fallopian tube: 78 nTPM
- placenta: 68 nTPM
- ovary: 59 nTPM
- cervix: 55 nTPM
- cerebellum: 53 nTPM
- seminal vesicle: 52 nTPM
Single-cell type
- lymphatic endothelial cells: 350 nCPM
- endometrial stromal cells: 290 nCPM
- bergmann glia: 280 nCPM
- hepatic stellate cells: 239 nCPM
- mesothelial cells: 204 nCPM
- fibroblasts: 192 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 142 nTPM
- thalamus: 123 nTPM
- amygdala: 122 nTPM
- midbrain: 119 nTPM
- basal ganglia: 103 nTPM
- cerebellum: 102 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NR2F1.
Disease | AllUniProt
Conditions NR2F1 is implicated in, by any mechanism.
- Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) MIM:615722
Disease | GeneticClinVar
124 pathogenic / likely-pathogenic of 461 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Bosch-Boonstra-Schaaf optic atrophy syndrome
- Inborn genetic diseases
- Neurodevelopmental delay
- See cases
- Seizure
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 4.17
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- negative regulation of neuron projection development
- negative regulation of transcription by RNA polymerase II
- nervous system development
- positive regulation of transcription by RNA polymerase II
- signal transduction
Molecular functions
- DNA-binding transcription factor activity
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- nuclear receptor activity
- retinoic acid-responsive element binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nuclear hormone receptor, ligand-binding domain
- Zinc finger, nuclear hormone receptor-type
- Nuclear hormone receptor
- Zinc finger, NHR/GATA-type
- Nuclear hormone receptor-like domain superfamily
- Nuclear hormone receptor family NR2 subfamily
- Ligand-binding domain of nuclear hormone receptor
- Double treble clef zinc finger, C4 type
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NR2F1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NR2F1 as an antibody target. Whether an autoantibody or antibody against NR2F1 could matter depends on whether native NR2F1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NR2F1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NR2F1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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