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UniProtKB - P10589 (COT1_HUMAN)
Protein
COUP transcription factor 1
Gene
NR2F1
Organism
Homo sapiens (Human)
Status
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 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 83 – 158 | Nuclear receptorPROSITE-ProRule annotationAdd BLAST | 76 | |
Zinc fingeri | 86 – 106 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 21 | |
Zinc fingeri | 122 – 146 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 25 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SB
- nuclear receptor activity Source: GO_Central
- retinoic acid-responsive element binding Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- zinc ion binding Source: InterPro
GO - Biological processi
- anatomical structure development Source: GO_Central
- cell differentiation Source: GO_Central
- negative regulation of neuron projection development Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- nervous system development Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- regulation of transcription by RNA polymerase II Source: GO_Central
- signal transduction Source: ProtInc
Keywordsi
Molecular function | Activator, DNA-binding, Receptor, Repressor |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | P10589 |
Reactomei | R-HSA-383280, Nuclear Receptor transcription pathway |
SignaLinki | P10589 |
SIGNORi | P10589 |
Names & Taxonomyi
Protein namesi | Recommended name: COUP transcription factor 1Short 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7975, NR2F1 |
MIMi | 132890, gene |
neXtProti | NX_P10589 |
VEuPathDBi | HostDB:ENSG00000175745 |
Subcellular locationi
Nucleus
- Nucleus Curated
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071319 | 112 | R → K in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777277EnsemblClinVar. | 1 | |
Natural variantiVAR_071320 | 113 | S → R in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777275EnsemblClinVar. | 1 | |
Natural variantiVAR_071321 | 115 | R → P in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777274EnsemblClinVar. | 1 | |
Natural variantiVAR_071322 | 252 | L → P in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777276EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 7025 |
MalaCardsi | NR2F1 |
MIMi | 615722, phenotype |
OpenTargetsi | ENSG00000175745 |
Orphaneti | 401777, Optic atrophy-intellectual disability syndrome |
PharmGKBi | PA31758 |
Miscellaneous databases
Pharosi | P10589, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1961789 |
DrugBanki | DB06732, beta-Naphthoflavone |
Genetic variation databases
BioMutai | NR2F1 |
DMDMi | 116959 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000053602 | 1 – 423 | COUP transcription factor 1Add BLAST | 423 |
Proteomic databases
EPDi | P10589 |
jPOSTi | P10589 |
MassIVEi | P10589 |
MaxQBi | P10589 |
PaxDbi | P10589 |
PeptideAtlasi | P10589 |
PRIDEi | P10589 |
ProteomicsDBi | 52615 |
PTM databases
iPTMneti | P10589 |
PhosphoSitePlusi | P10589 |
Expressioni
Inductioni
Inhibited by gonadotropin in granulosa cells.1 Publication
Gene expression databases
Bgeei | ENSG00000175745, Expressed in metanephros and 231 other tissues |
ExpressionAtlasi | P10589, baseline and differential |
Genevisiblei | P10589, HS |
Organism-specific databases
HPAi | ENSG00000175745, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 112883, 47 interactors |
DIPi | DIP-622N |
IntActi | P10589, 12 interactors |
MINTi | P10589 |
STRINGi | 9606.ENSP00000325819 |
Chemistry databases
BindingDBi | P10589 |
Miscellaneous databases
RNActi | P10589, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P10589 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P10589 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 184 – 410 | NR LBDPROSITE-ProRule annotationAdd BLAST | 227 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 81 | DisorderedSequence analysisAdd BLAST | 81 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 39 – 53 | Polar residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 86 – 106 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 21 | |
Zinc fingeri | 122 – 146 | NR C4-typePROSITE-ProRule annotationAdd BLAST | 25 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | KOG3575, Eukaryota |
GeneTreei | ENSGT00940000157876 |
InParanoidi | P10589 |
OMAi | QDIFTER |
OrthoDBi | 666130at2759 |
PhylomeDBi | P10589 |
TreeFami | TF352097 |
Family and domain databases
Gene3Di | 1.10.565.10, 1 hit 3.30.50.10, 1 hit |
InterProi | View protein in InterPro IPR035500, NHR-like_dom_sf IPR000536, Nucl_hrmn_rcpt_lig-bd IPR001723, Nuclear_hrmn_rcpt IPR001628, Znf_hrmn_rcpt IPR013088, Znf_NHR/GATA |
Pfami | View protein in Pfam PF00104, Hormone_recep, 1 hit PF00105, zf-C4, 1 hit |
PRINTSi | PR00398, STRDHORMONER PR00047, STROIDFINGER |
SMARTi | View protein in SMART SM00430, HOLI, 1 hit SM00399, ZnF_C4, 1 hit |
SUPFAMi | SSF48508, SSF48508, 1 hit |
PROSITEi | View protein in PROSITE PS51843, NR_LBD, 1 hit PS00031, NUCLEAR_REC_DBD_1, 1 hit PS51030, NUCLEAR_REC_DBD_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
P10589-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF1DAL9 | F1DAL9_HUMAN | COUP transcription factor 1 | NR2F1 | 398 | Annotation score: | ||
F1DAL7 | F1DAL7_HUMAN | COUP transcription factor 1 | NR2F1 | 372 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078708 | 110 | Missing Probable disease-associated variant found in a patient with early infantile epileptic encephalopathy. 1 Publication | 1 | |
Natural variantiVAR_071319 | 112 | R → K in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777277EnsemblClinVar. | 1 | |
Natural variantiVAR_071320 | 113 | S → R in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777275EnsemblClinVar. | 1 | |
Natural variantiVAR_071321 | 115 | R → P in BBSOAS; decreases transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs587777274EnsemblClinVar. | 1 | |
Natural variantiVAR_071322 | 252 | L → 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 |
CCDSi | CCDS4068.1 |
PIRi | S02710 |
RefSeqi | NP_005645.1, NM_005654.5 |
Genome annotation databases
Ensembli | ENST00000327111; ENSP00000325819; ENSG00000175745 |
GeneIDi | 7025 |
KEGGi | hsa:7025 |
MANE-Selecti | ENST00000327111.8; ENSP00000325819.3; NM_005654.6; NP_005645.1 |
UCSCi | uc003kkj.4, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS4068.1 |
PIRi | S02710 |
RefSeqi | NP_005645.1, NM_005654.5 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2EBL | NMR | - | A | 84-159 | [»] | |
SMRi | P10589 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112883, 47 interactors |
DIPi | DIP-622N |
IntActi | P10589, 12 interactors |
MINTi | P10589 |
STRINGi | 9606.ENSP00000325819 |
Chemistry databases
BindingDBi | P10589 |
ChEMBLi | CHEMBL1961789 |
DrugBanki | DB06732, beta-Naphthoflavone |
PTM databases
iPTMneti | P10589 |
PhosphoSitePlusi | P10589 |
Genetic variation databases
BioMutai | NR2F1 |
DMDMi | 116959 |
Proteomic databases
EPDi | P10589 |
jPOSTi | P10589 |
MassIVEi | P10589 |
MaxQBi | P10589 |
PaxDbi | P10589 |
PeptideAtlasi | P10589 |
PRIDEi | P10589 |
ProteomicsDBi | 52615 |
Protocols and materials databases
Antibodypediai | 24914, 272 antibodies from 33 providers |
DNASUi | 7025 |
Genome annotation databases
Ensembli | ENST00000327111; ENSP00000325819; ENSG00000175745 |
GeneIDi | 7025 |
KEGGi | hsa:7025 |
MANE-Selecti | ENST00000327111.8; ENSP00000325819.3; NM_005654.6; NP_005645.1 |
UCSCi | uc003kkj.4, human |
Organism-specific databases
CTDi | 7025 |
DisGeNETi | 7025 |
GeneCardsi | NR2F1 |
HGNCi | HGNC:7975, NR2F1 |
HPAi | ENSG00000175745, Low tissue specificity |
MalaCardsi | NR2F1 |
MIMi | 132890, gene 615722, phenotype |
neXtProti | NX_P10589 |
OpenTargetsi | ENSG00000175745 |
Orphaneti | 401777, Optic atrophy-intellectual disability syndrome |
PharmGKBi | PA31758 |
VEuPathDBi | HostDB:ENSG00000175745 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3575, Eukaryota |
GeneTreei | ENSGT00940000157876 |
InParanoidi | P10589 |
OMAi | QDIFTER |
OrthoDBi | 666130at2759 |
PhylomeDBi | P10589 |
TreeFami | TF352097 |
Enzyme and pathway databases
PathwayCommonsi | P10589 |
Reactomei | R-HSA-383280, Nuclear Receptor transcription pathway |
SignaLinki | P10589 |
SIGNORi | P10589 |
Miscellaneous databases
BioGRID-ORCSi | 7025, 9 hits in 1062 CRISPR screens |
ChiTaRSi | NR2F1, human |
EvolutionaryTracei | P10589 |
GeneWikii | COUP-TFI |
GenomeRNAii | 7025 |
Pharosi | P10589, Tbio |
PROi | PR:P10589 |
RNActi | P10589, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000175745, Expressed in metanephros and 231 other tissues |
ExpressionAtlasi | P10589, baseline and differential |
Genevisiblei | P10589, HS |
Family and domain databases
Gene3Di | 1.10.565.10, 1 hit 3.30.50.10, 1 hit |
InterProi | View protein in InterPro IPR035500, NHR-like_dom_sf IPR000536, Nucl_hrmn_rcpt_lig-bd IPR001723, Nuclear_hrmn_rcpt IPR001628, Znf_hrmn_rcpt IPR013088, Znf_NHR/GATA |
Pfami | View protein in Pfam PF00104, Hormone_recep, 1 hit PF00105, zf-C4, 1 hit |
PRINTSi | PR00398, STRDHORMONER PR00047, STROIDFINGER |
SMARTi | View protein in SMART SM00430, HOLI, 1 hit SM00399, ZnF_C4, 1 hit |
SUPFAMi | SSF48508, SSF48508, 1 hit |
PROSITEi | View protein in PROSITE PS51843, NR_LBD, 1 hit PS00031, NUCLEAR_REC_DBD_1, 1 hit PS51030, NUCLEAR_REC_DBD_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | COT1_HUMAN | |
Accessioni | P10589Primary (citable) accession number: P10589 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1989 |
Last sequence update: | July 1, 1989 | |
Last modified: | February 23, 2022 | |
This is version 215 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families