ID FOXE1_MOUSE Reviewed; 371 AA.
AC Q8R2I0; A2AM00;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 2.
DT 24-JAN-2024, entry version 146.
DE RecName: Full=Forkhead box protein E1;
DE AltName: Full=Thyroid transcription factor 2;
DE Short=TTF-2;
GN Name=Foxe1; Synonyms=Titf2;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], PHOSPHORYLATION, TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC STRAIN=129/Sv;
RX PubMed=12203737; DOI=10.1002/dvdy.10118;
RA Dathan N., Parlato R., Rosica A., De Felice M., Di Lauro R.;
RT "Distribution of the titf2/foxe1 gene product is consistent with an
RT important role in the development of foregut endoderm, palate, and hair.";
RL Dev. Dyn. 224:450-456(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=9697704; DOI=10.1038/1289;
RA De Felice M., Ovitt C., Biffali E., Rodriguez-Mallon A., Arra C.,
RA Anastassiadis K., Macchia P.E., Mattei M.G., Mariano A., Schoeler H.,
RA Macchia V., Di Lauro R.;
RT "A mouse model for hereditary thyroid dysgenesis and cleft palate.";
RL Nat. Genet. 19:395-398(1998).
RN [4]
RP FUNCTION.
RX PubMed=21177256; DOI=10.1093/hmg/ddq547;
RA Venza I., Visalli M., Parrillo L., De Felice M., Teti D., Venza M.;
RT "MSX1 and TGF-beta3 are novel target genes functionally regulated by
RT FOXE1.";
RL Hum. Mol. Genet. 20:1016-1025(2011).
CC -!- FUNCTION: Transcription factor that binds consensus sites on a variety
CC of gene promoters and activate their transcription. Involved in proper
CC palate formation, most probably through the expression of MSX1 and
CC TGFB3 genes which are direct targets of this transcription factor
CC (PubMed:21177256). Also implicated in thyroid gland morphogenesis
CC (PubMed:9697704). May indirectly play a role in cell growth and
CC migration through the regulation of WNT5A expression (By similarity).
CC {ECO:0000250|UniProtKB:O00358, ECO:0000269|PubMed:21177256,
CC ECO:0000269|PubMed:9697704}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O00358}.
CC -!- TISSUE SPECIFICITY: Expressed in Rathke pouch, in thyroid, and in the
CC epithelium of the pharyngeal wall and arches, whereas it is absent in
CC the epithelium of the pharyngeal pouches.
CC {ECO:0000269|PubMed:12203737}.
CC -!- DEVELOPMENTAL STAGE: At 13.5 dpc, it is present in endoderm
CC derivatives, such as tongue, palate, epiglottis, pharynx, and
CC esophagus. Later in embryogenesis, it is detected in the choanae and
CC whiskers. {ECO:0000269|PubMed:12203737}.
CC -!- PTM: Phosphorylated. {ECO:0000269|PubMed:12203737}.
CC -!- DISRUPTION PHENOTYPE: Knockout mice die before hair formation. They
CC exhibit cleft palate and either a sublingual or completely absent
CC thyroid gland and show neonatal hypothyroidism.
CC {ECO:0000269|PubMed:9697704}.
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DR EMBL; AJ457047; CAD29716.2; -; Genomic_DNA.
DR EMBL; AL806523; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS18147.1; -.
DR RefSeq; NP_899121.1; NM_183298.1.
DR AlphaFoldDB; Q8R2I0; -.
DR SMR; Q8R2I0; -.
DR STRING; 10090.ENSMUSP00000092715; -.
DR iPTMnet; Q8R2I0; -.
DR PhosphoSitePlus; Q8R2I0; -.
DR PaxDb; 10090-ENSMUSP00000092715; -.
DR ProteomicsDB; 267494; -.
DR Antibodypedia; 28896; 300 antibodies from 34 providers.
DR DNASU; 110805; -.
DR Ensembl; ENSMUST00000095097.3; ENSMUSP00000092715.3; ENSMUSG00000070990.3.
DR GeneID; 110805; -.
DR KEGG; mmu:110805; -.
DR UCSC; uc008sto.1; mouse.
DR AGR; MGI:1353500; -.
DR CTD; 2304; -.
DR MGI; MGI:1353500; Foxe1.
DR VEuPathDB; HostDB:ENSMUSG00000070990; -.
DR eggNOG; KOG2294; Eukaryota.
DR GeneTree; ENSGT00940000162270; -.
DR HOGENOM; CLU_023357_0_0_1; -.
DR InParanoid; Q8R2I0; -.
DR OMA; HETPVFS; -.
DR OrthoDB; 5385885at2759; -.
DR PhylomeDB; Q8R2I0; -.
DR TreeFam; TF316127; -.
DR BioGRID-ORCS; 110805; 3 hits in 79 CRISPR screens.
DR PRO; PR:Q8R2I0; -.
DR Proteomes; UP000000589; Chromosome 4.
DR RNAct; Q8R2I0; Protein.
DR Bgee; ENSMUSG00000070990; Expressed in stomodeum and 25 other cell types or tissues.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; ISO:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISS:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0016477; P:cell migration; IMP:MGI.
DR GO; GO:0160093; P:chordate pharynx development; IEA:Ensembl.
DR GO; GO:1904888; P:cranial skeletal system development; IMP:UniProtKB.
DR GO; GO:0048562; P:embryonic organ morphogenesis; IMP:MGI.
DR GO; GO:0031069; P:hair follicle morphogenesis; IMP:MGI.
DR GO; GO:0060022; P:hard palate development; ISO:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0045893; P:positive regulation of DNA-templated transcription; ISO:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0060021; P:roof of mouth development; IMP:UniProtKB.
DR GO; GO:0060023; P:soft palate development; ISO:MGI.
DR GO; GO:0048538; P:thymus development; IEA:Ensembl.
DR GO; GO:0030878; P:thyroid gland development; IMP:MGI.
DR GO; GO:0006590; P:thyroid hormone generation; IMP:MGI.
DR CDD; cd20019; FH_FOXE; 1.
DR Gene3D; 1.10.10.10; Winged helix-like DNA-binding domain superfamily/Winged helix DNA-binding domain; 1.
DR InterPro; IPR001766; Fork_head_dom.
DR InterPro; IPR018122; TF_fork_head_CS_1.
DR InterPro; IPR030456; TF_fork_head_CS_2.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR11829; FORKHEAD BOX PROTEIN; 1.
DR PANTHER; PTHR11829:SF368; FORKHEAD BOX PROTEIN E1; 1.
DR Pfam; PF00250; Forkhead; 1.
DR PRINTS; PR00053; FORKHEAD.
DR SMART; SM00339; FH; 1.
DR SUPFAM; SSF46785; Winged helix' DNA-binding domain; 1.
DR PROSITE; PS00657; FORK_HEAD_1; 1.
DR PROSITE; PS00658; FORK_HEAD_2; 1.
DR PROSITE; PS50039; FORK_HEAD_3; 1.
PE 1: Evidence at protein level;
KW DNA-binding; Nucleus; Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..371
FT /note="Forkhead box protein E1"
FT /id="PRO_0000091827"
FT DNA_BIND 55..149
FT /note="Fork-head"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00089"
FT REGION 21..53
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 371 AA; 37768 MW; 8AB92160F2DDFAFA CRC64;
MTAESAPPPP PQPETLAAVK EERGEAAAAG AGVPAEAAGR GAGGRRRKRP LQRGKPPYSY
IALIAMAIAH APERRLTLGG IYKFITERFP FYRDNPKKWQ NSIRHNLTLN DCFLKIPREA
GRPGKGNYWA LDPNAEDMFE SGSFLRRRKR FKRSDLSTYP AYMHDAAAAA AAAAAAIFPG
AVPAARPAYP GAVYAGYAPP LAAPPPVYYP AASPGPCRVF GLVPERPLSP DLGPAPSAAG
GSCAFAAAAG AAGTGSFQPA VCTGARPVNP AAYAAAYAGP DGAYPQGASS ALFAAAAGRL
AGPASPPAGG GSGGVEATVD FYGRTSPGQF GAALGPCYNP GGQLGAGGGG AYHSRHATAY
PGAVDRFVSA M
//
