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COUP transcription factor 1 (COUP-TF1) (COUP transcription factor I) (COUP-TF I) (Nuclear receptor subfamily 2 group F member 1) (V-erbA-related protein 3) (EAR-3)

 COT1_HUMAN              Reviewed;         423 AA.
P10589;
01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
01-JUL-1989, sequence version 1.
25-OCT-2017, entry version 185.
RecName: Full=COUP transcription factor 1;
Short=COUP-TF1;
AltName: Full=COUP transcription factor I;
Short=COUP-TF I;
AltName: Full=Nuclear receptor subfamily 2 group F member 1;
AltName: Full=V-erbA-related protein 3;
Short=EAR-3;
Name=NR2F1; Synonyms=EAR3, ERBAL3, TFCOUP1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] OF 6-423, AND PARTIAL PROTEIN SEQUENCE.
PubMed=2739739; DOI=10.1038/340163a0;
Wang L.-H., Tsai S.Y., Cook R.G., Beattie W.G., Tsai M.-J.,
O'Malley B.W.;
"COUP transcription factor is a member of the steroid receptor
superfamily.";
Nature 340:163-166(1989).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Lung;
PubMed=2905047; DOI=10.1093/nar/16.23.11057;
Miyajima N., Kadowaki Y., Fukushige S., Shimizu S., Semba K.,
Yamanashi Y., Matsubara K., Toyoshima K., Yamamoto T.;
"Identification of two novel members of erbA superfamily by molecular
cloning: the gene products of the two are highly related to each
other.";
Nucleic Acids Res. 16:11057-11074(1988).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lung, and Uterus;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[4]
INTERACTION WITH COPS2.
PubMed=10207062; DOI=10.1128/MCB.19.5.3383;
Dressel U., Thormeyer D., Altincicek B., Paululat A., Eggert M.,
Schneider S., Tenbaum S.P., Renkawitz R., Baniahmad A.;
"Alien, a highly conserved protein with characteristics of a
corepressor for members of the nuclear hormone receptor superfamily.";
Mol. Cell. Biol. 19:3383-3394(1999).
[5]
FUNCTION.
PubMed=10644740; DOI=10.1074/jbc.275.4.2763;
Zhang Y., Dufau M.L.;
"Nuclear orphan receptors regulate transcription of the gene for the
human luteinizing hormone receptor.";
J. Biol. Chem. 275:2763-2770(2000).
[6]
FUNCTION, SUBUNIT, AND INDUCTION BY GONADOTROPIN.
PubMed=11682620; DOI=10.1210/mend.15.11.0720;
Zhang Y., Dufau M.L.;
"EAR2 and EAR3/COUP-TFI regulate transcription of the rat LH
receptor.";
Mol. Endocrinol. 15:1891-1905(2001).
[7]
STRUCTURE BY NMR OF 84-162.
RIKEN structural genomics initiative (RSGI);
"Solution structure of the zinc finger, C4-type domain of human COUP
transcription factor 1.";
Submitted (FEB-2008) to the PDB data bank.
[8]
INVOLVEMENT IN BBSOAS, VARIANTS BBSOAS LYS-112; ARG-113; PRO-115 AND
PRO-252, AND CHARACTERIZATION OF VARIANTS BBSOAS LYS-112; ARG-113;
PRO-115 AND PRO-252.
PubMed=24462372; DOI=10.1016/j.ajhg.2014.01.002;
Bosch D.G., Boonstra F.N., Gonzaga-Jauregui C., Xu M., de Ligt J.,
Jhangiani S., Wiszniewski W., Muzny D.M., Yntema H.G., Pfundt R.,
Vissers L.E., Spruijt L., Blokland E.A., Chen C.A., Lewis R.A.,
Tsai S.Y., Gibbs R.A., Tsai M.J., Lupski J.R., Zoghbi H.Y.,
Cremers F.P., de Vries B.B., Schaaf C.P.;
"NR2F1 mutations cause optic atrophy with intellectual disability.";
Am. J. Hum. Genet. 94:303-309(2014).
[9]
VARIANT PHE-110 DEL.
PubMed=26138355; DOI=10.1111/cge.12636;
Dimassi S., Labalme A., Ville D., Calender A., Mignot C.,
Boutry-Kryza N., de Bellescize J., Rivier-Ringenbach C.,
Bourel-Ponchel E., Cheillan D., Simonet T., Maincent K., Rossi M.,
Till M., Mougou-Zerelli S., Edery P., Saad A., Heron D.,
des Portes V., Sanlaville D., Lesca G.;
"Whole-exome sequencing improves the diagnosis yield in sporadic
infantile spasm syndrome.";
Clin. Genet. 89:198-204(2016).
-!- FUNCTION: 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.
{ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:11682620}.
-!- SUBUNIT: Binds DNA as dimer; homodimer and probable heterodimer
with NR2F6. Interacts with COPS2. {ECO:0000269|PubMed:10207062,
ECO:0000269|PubMed:11682620}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
-!- INDUCTION: Inhibited by gonadotropin in granulosa cells.
{ECO:0000269|PubMed:11682620}.
-!- DISEASE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
[MIM:615722]: An autosomal dominant disorder characterized by
optic atrophy associated with developmental delay and intellectual
disability. Most patients also have evidence of cerebral visual
impairment. {ECO:0000269|PubMed:24462372}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR2
subfamily. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; X16155; CAA34277.1; -; mRNA.
EMBL; X12795; CAA31283.1; -; Genomic_DNA.
EMBL; BC004154; AAH04154.1; -; mRNA.
EMBL; BC017493; AAH17493.1; -; mRNA.
CCDS; CCDS4068.1; -.
PIR; S02710; S02710.
RefSeq; NP_005645.1; NM_005654.5.
UniGene; Hs.519445; -.
PDB; 2EBL; NMR; -; A=84-159.
PDBsum; 2EBL; -.
ProteinModelPortal; P10589; -.
SMR; P10589; -.
BioGrid; 112883; 29.
DIP; DIP-622N; -.
IntAct; P10589; 8.
MINT; MINT-1514389; -.
STRING; 9606.ENSP00000325819; -.
BindingDB; P10589; -.
ChEMBL; CHEMBL1961789; -.
iPTMnet; P10589; -.
PhosphoSitePlus; P10589; -.
BioMuta; NR2F1; -.
DMDM; 116959; -.
MaxQB; P10589; -.
PaxDb; P10589; -.
PeptideAtlas; P10589; -.
PRIDE; P10589; -.
DNASU; 7025; -.
Ensembl; ENST00000327111; ENSP00000325819; ENSG00000175745.
GeneID; 7025; -.
KEGG; hsa:7025; -.
UCSC; uc003kkj.4; human.
CTD; 7025; -.
DisGeNET; 7025; -.
EuPathDB; HostDB:ENSG00000175745.11; -.
GeneCards; NR2F1; -.
HGNC; HGNC:7975; NR2F1.
HPA; CAB019281; -.
MalaCards; NR2F1; -.
MIM; 132890; gene.
MIM; 615722; phenotype.
neXtProt; NX_P10589; -.
OpenTargets; ENSG00000175745; -.
Orphanet; 401777; Optic atrophy-intellectual disability syndrome.
PharmGKB; PA31758; -.
eggNOG; KOG3575; Eukaryota.
eggNOG; ENOG410XRZC; LUCA.
GeneTree; ENSGT00760000118948; -.
HOGENOM; HOG000260820; -.
HOVERGEN; HBG005606; -.
InParanoid; P10589; -.
KO; K08547; -.
OMA; GDKGQSQ; -.
OrthoDB; EOG091G0YX6; -.
PhylomeDB; P10589; -.
TreeFam; TF352097; -.
Reactome; R-HSA-383280; Nuclear Receptor transcription pathway.
SignaLink; P10589; -.
SIGNOR; P10589; -.
ChiTaRS; NR2F1; human.
EvolutionaryTrace; P10589; -.
GeneWiki; COUP-TFI; -.
GenomeRNAi; 7025; -.
PRO; PR:P10589; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000175745; -.
CleanEx; HS_NR2F1; -.
ExpressionAtlas; P10589; baseline and differential.
Genevisible; P10589; HS.
GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0044323; F:retinoic acid-responsive element binding; IEA:Ensembl.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0004879; F:RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding; TAS:ProtInc.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0003707; F:steroid hormone receptor activity; IEA:InterPro.
GO; GO:0003713; F:transcription coactivator activity; TAS:ProtInc.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0001078; F:transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding; IDA:NTNU_SB.
GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
GO; GO:0010977; P:negative regulation of neuron projection development; IEA:Ensembl.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IEA:Ensembl.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
GO; GO:0006367; P:transcription initiation from RNA polymerase II promoter; TAS:Reactome.
Gene3D; 1.10.565.10; -; 1.
Gene3D; 3.30.50.10; -; 1.
InterPro; IPR003068; COUP_TF.
InterPro; IPR035500; NHR_like_domain.
InterPro; IPR000536; Nucl_hrmn_rcpt_lig-bd.
InterPro; IPR001723; Nuclear_hrmn_rcpt.
InterPro; IPR001628; Znf_hrmn_rcpt.
InterPro; IPR013088; Znf_NHR/GATA.
Pfam; PF00104; Hormone_recep; 1.
Pfam; PF00105; zf-C4; 1.
PRINTS; PR01282; COUPTNFACTOR.
PRINTS; PR00398; STRDHORMONER.
PRINTS; PR00047; STROIDFINGER.
SMART; SM00430; HOLI; 1.
SMART; SM00399; ZnF_C4; 1.
SUPFAM; SSF48508; SSF48508; 1.
PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
1: Evidence at protein level;
3D-structure; Activator; Complete proteome; Direct protein sequencing;
Disease mutation; DNA-binding; Metal-binding; Nucleus; Receptor;
Reference proteome; Repressor; Transcription;
Transcription regulation; Zinc; Zinc-finger.
CHAIN 1 423 COUP transcription factor 1.
/FTId=PRO_0000053602.
DNA_BIND 83 158 Nuclear receptor. {ECO:0000255|PROSITE-
ProRule:PRU00407}.
ZN_FING 86 106 NR C4-type. {ECO:0000255|PROSITE-
ProRule:PRU00407}.
ZN_FING 122 146 NR C4-type. {ECO:0000255|PROSITE-
ProRule:PRU00407}.
COMPBIAS 32 36 Poly-Gly.
VARIANT 110 110 Missing (probable disease-associated
mutation found in a patient with early
infantile epileptic encephalopathy).
{ECO:0000269|PubMed:26138355}.
/FTId=VAR_078708.
VARIANT 112 112 R -> K (in BBSOAS; decreases
transcriptional activity;
dbSNP:rs587777277).
{ECO:0000269|PubMed:24462372}.
/FTId=VAR_071319.
VARIANT 113 113 S -> R (in BBSOAS; decreases
transcriptional activity;
dbSNP:rs587777275).
{ECO:0000269|PubMed:24462372}.
/FTId=VAR_071320.
VARIANT 115 115 R -> P (in BBSOAS; decreases
transcriptional activity;
dbSNP:rs587777274).
{ECO:0000269|PubMed:24462372}.
/FTId=VAR_071321.
VARIANT 252 252 L -> P (in BBSOAS; decreases
transcriptional activity;
dbSNP:rs587777276).
{ECO:0000269|PubMed:24462372}.
/FTId=VAR_071322.
TURN 87 89 {ECO:0000244|PDB:2EBL}.
STRAND 95 97 {ECO:0000244|PDB:2EBL}.
HELIX 104 114 {ECO:0000244|PDB:2EBL}.
TURN 115 117 {ECO:0000244|PDB:2EBL}.
STRAND 132 136 {ECO:0000244|PDB:2EBL}.
HELIX 140 149 {ECO:0000244|PDB:2EBL}.
HELIX 153 156 {ECO:0000244|PDB:2EBL}.
SEQUENCE 423 AA; 46156 MW; 6EE634BE96242731 CRC64;
MAMVVSSWRD PQDDVAGGNP GGPNPAAQAA RGGGGGAGEQ QQQAGSGAPH TPQTPGQPGA
PATPGTAGDK GQGPPGSGQS QQHIECVVCG DKSSGKHYGQ FTCEGCKSFF KRSVRRNLTY
TCRANRNCPI DQHHRNQCQY CRLKKCLKVG MRREAVQRGR MPPTQPNPGQ YALTNGDPLN
GHCYLSGYIS LLLRAEPYPT SRYGSQCMQP NNIMGIENIC ELAARLLFSA VEWARNIPFF
PDLQITDQVS LLRLTWSELF VLNAAQCSMP LHVAPLLAAA GLHASPMSAD RVVAFMDHIR
IFQEQVEKLK ALHVDSAEYS CLKAIVLFTS DACGLSDAAH IESLQEKSQC ALEEYVRSQY
PNQPSRFGKL LLRLPSLRTV SSSVIEQLFF VRLVGKTPIE TLIRDMLLSG SSFNWPYMSI
QCS


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