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Protein

COUP transcription factor 1

Gene

NR2F1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi83 – 158Nuclear receptorPROSITE-ProRule annotationAdd BLAST76
Zinc fingeri86 – 106NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri122 – 146NR C4-typePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

  • DNA binding transcription factor activity Source: UniProtKB
  • nuclear receptor activity Source: ProtInc
  • RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
  • sequence-specific DNA binding Source: UniProtKB
  • steroid hormone receptor activity Source: InterPro
  • transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
  • transcription coactivator activity Source: ProtInc
  • zinc ion binding Source: InterPro

GO - Biological processi

  • negative regulation of transcription by RNA polymerase II Source: UniProtKB
  • signal transduction Source: ProtInc
  • transcription initiation from RNA polymerase II promoter Source: Reactome

Keywordsi

Molecular functionActivator, DNA-binding, Receptor, Repressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
SignaLinkiP10589
SIGNORiP10589

Names & Taxonomyi

Protein namesi
Recommended name:
COUP transcription factor 1
Short name:
COUP-TF1
Alternative name(s):
COUP transcription factor I
Short name:
COUP-TF I
Nuclear receptor subfamily 2 group F member 1
V-erbA-related protein 3
Short name:
EAR-3
Gene namesi
Name:NR2F1
Synonyms:EAR3, ERBAL3, TFCOUP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000175745.11
HGNCiHGNC:7975 NR2F1
MIMi132890 gene
neXtProtiNX_P10589

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment.
See also OMIM:615722
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071319112R → K in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777277EnsemblClinVar.1
Natural variantiVAR_071320113S → R in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777275EnsemblClinVar.1
Natural variantiVAR_071321115R → P in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777274EnsemblClinVar.1
Natural variantiVAR_071322252L → P in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777276EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7025
MalaCardsiNR2F1
MIMi615722 phenotype
OpenTargetsiENSG00000175745
Orphaneti401777 Optic atrophy-intellectual disability syndrome
PharmGKBiPA31758

Chemistry databases

ChEMBLiCHEMBL1961789

Polymorphism and mutation databases

BioMutaiNR2F1
DMDMi116959

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000536021 – 423COUP transcription factor 1Add BLAST423

Proteomic databases

EPDiP10589
MaxQBiP10589
PaxDbiP10589
PeptideAtlasiP10589
PRIDEiP10589
ProteomicsDBi52615

PTM databases

iPTMnetiP10589
PhosphoSitePlusiP10589

Expressioni

Inductioni

Inhibited by gonadotropin in granulosa cells.1 Publication

Gene expression databases

BgeeiENSG00000175745
CleanExiHS_NR2F1
ExpressionAtlasiP10589 baseline and differential
GenevisibleiP10589 HS

Organism-specific databases

HPAiCAB019281
HPA058974

Interactioni

Subunit structurei

Binds DNA as dimer; homodimer and probable heterodimer with NR2F6. Interacts with COPS2.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
GTF2BQ004033EBI-2795168,EBI-389564

Protein-protein interaction databases

BioGridi112883, 30 interactors
DIPiDIP-622N
IntActiP10589, 10 interactors
MINTiP10589
STRINGi9606.ENSP00000325819

Chemistry databases

BindingDBiP10589

Structurei

Secondary structure

1423
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni87 – 89Combined sources3
Beta strandi95 – 97Combined sources3
Helixi104 – 114Combined sources11
Turni115 – 117Combined sources3
Beta strandi132 – 136Combined sources5
Helixi140 – 149Combined sources10
Helixi153 – 156Combined sources4

3D structure databases

ProteinModelPortaliP10589
SMRiP10589
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP10589

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini184 – 410NR LBDPROSITE-ProRule annotationAdd BLAST227

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi32 – 36Poly-Gly5

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri86 – 106NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri122 – 146NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00760000118948
HOGENOMiHOG000260820
HOVERGENiHBG005606
InParanoidiP10589
KOiK08547
OMAiGDKGQSQ
OrthoDBiEOG091G0YX6
PhylomeDBiP10589
TreeFamiTF352097

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR003068 COUP_TF
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR01282 COUPTNFACTOR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequencei

Sequence statusi: Complete.

P10589-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAMVVSSWRD PQDDVAGGNP GGPNPAAQAA RGGGGGAGEQ QQQAGSGAPH
60 70 80 90 100
TPQTPGQPGA PATPGTAGDK GQGPPGSGQS QQHIECVVCG DKSSGKHYGQ
110 120 130 140 150
FTCEGCKSFF KRSVRRNLTY TCRANRNCPI DQHHRNQCQY CRLKKCLKVG
160 170 180 190 200
MRREAVQRGR MPPTQPNPGQ YALTNGDPLN GHCYLSGYIS LLLRAEPYPT
210 220 230 240 250
SRYGSQCMQP NNIMGIENIC ELAARLLFSA VEWARNIPFF PDLQITDQVS
260 270 280 290 300
LLRLTWSELF VLNAAQCSMP LHVAPLLAAA GLHASPMSAD RVVAFMDHIR
310 320 330 340 350
IFQEQVEKLK ALHVDSAEYS CLKAIVLFTS DACGLSDAAH IESLQEKSQC
360 370 380 390 400
ALEEYVRSQY PNQPSRFGKL LLRLPSLRTV SSSVIEQLFF VRLVGKTPIE
410 420
TLIRDMLLSG SSFNWPYMSI QCS
Length:423
Mass (Da):46,156
Last modified:July 1, 1989 - v1
Checksum:i6EE634BE96242731
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078708110Missing Probable disease-associated mutation found in a patient with early infantile epileptic encephalopathy. 1 Publication1
Natural variantiVAR_071319112R → K in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777277EnsemblClinVar.1
Natural variantiVAR_071320113S → R in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777275EnsemblClinVar.1
Natural variantiVAR_071321115R → P in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777274EnsemblClinVar.1
Natural variantiVAR_071322252L → P in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777276EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X16155 mRNA Translation: CAA34277.1
X12795 Genomic DNA Translation: CAA31283.1
BC004154 mRNA Translation: AAH04154.1
BC017493 mRNA Translation: AAH17493.1
CCDSiCCDS4068.1
PIRiS02710
RefSeqiNP_005645.1, NM_005654.5
UniGeneiHs.519445

Genome annotation databases

EnsembliENST00000327111; ENSP00000325819; ENSG00000175745
ENST00000644230; ENSP00000495420; ENSG00000175745
GeneIDi7025
KEGGihsa:7025
UCSCiuc003kkj.4 human

Similar proteinsi

Entry informationi

Entry nameiCOT1_HUMAN
AccessioniPrimary (citable) accession number: P10589
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 1, 1989
Last modified: July 18, 2018
This is version 194 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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