EMX1_MOUSE
ID EMX1_MOUSE Reviewed; 257 AA.
AC Q04742; Q3SXG0;
DT 01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
DT 09-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Homeobox protein EMX1;
DE AltName: Full=Empty spiracles homolog 1;
DE AltName: Full=Empty spiracles-like protein 1;
GN Name=Emx1; Synonyms=Emx-1;
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 [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 159-224.
RX PubMed=1352754; DOI=10.1002/j.1460-2075.1992.tb05319.x;
RA Simeone A., Gulisano M., Acampora D., Stornaiuolo A., Rambaldi M.,
RA Boncinelli E.;
RT "Two vertebrate homeobox genes related to the Drosophila empty spiracles
RT gene are expressed in the embryonic cerebral cortex.";
RL EMBO J. 11:2541-2550(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 159-224, FUNCTION, AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=1353865; DOI=10.1038/358687a0;
RA Simeone A., Acampora D., Gulisano M., Stornaiuolo A., Boncinelli E.;
RT "Nested expression domains of four homeobox genes in developing rostral
RT brain.";
RL Nature 358:687-690(1992).
RN [4]
RP FUNCTION.
RX PubMed=15147765; DOI=10.1016/j.mod.2004.03.013;
RA Shinozaki K., Yoshida M., Nakamura M., Aizawa S., Suda Y.;
RT "Emx1 and Emx2 cooperate in initial phase of archipallium development.";
RL Mech. Dev. 121:475-489(2004).
RN [5]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=20887964; DOI=10.1016/j.ajhg.2010.08.018;
RA Kim H.G., Ahn J.W., Kurth I., Ullmann R., Kim H.T., Kulharya A., Ha K.S.,
RA Itokawa Y., Meliciani I., Wenzel W., Lee D., Rosenberger G., Ozata M.,
RA Bick D.P., Sherins R.J., Nagase T., Tekin M., Kim S.H., Kim C.H.,
RA Ropers H.H., Gusella J.F., Kalscheuer V., Choi C.Y., Layman L.C.;
RT "WDR11, a WD protein that interacts with transcription factor EMX1, is
RT mutated in idiopathic hypogonadotropic hypogonadism and Kallmann
RT syndrome.";
RL Am. J. Hum. Genet. 87:465-479(2010).
RN [6]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH WDR11.
RX PubMed=29263200; DOI=10.15252/embr.201744632;
RA Kim Y.J., Osborn D.P., Lee J.Y., Araki M., Araki K., Mohun T.,
RA Kaensaekoski J., Brandstack N., Kim H.T., Miralles F., Kim C.H.,
RA Brown N.A., Kim H.G., Martinez-Barbera J.P., Ataliotis P., Raivio T.,
RA Layman L.C., Kim S.H.;
RT "WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy
RT related to Kallmann syndrome.";
RL EMBO Rep. 19:269-289(2018).
CC -!- FUNCTION: Transcription factor, which in cooperation with EMX2, acts to
CC generate the boundary between the roof and archipallium in the
CC developing brain. May function in combinations with OTX1/2 to specify
CC cell fates in the developing central nervous system.
CC {ECO:0000269|PubMed:1353865, ECO:0000269|PubMed:15147765}.
CC -!- SUBUNIT: Interacts with WRD11 (via the N-terminal and the central
CC portion of the protein); the interaction associates EMX1 with GLI3.
CC {ECO:0000269|PubMed:29263200}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29263200}.
CC -!- TISSUE SPECIFICITY: Cerebral cortex. Expressed in the olfactory bulbs.
CC {ECO:0000269|PubMed:1353865, ECO:0000269|PubMed:20887964}.
CC -!- DEVELOPMENTAL STAGE: Detectable from 9.5 dpc.
CC {ECO:0000269|PubMed:20887964}.
CC -!- SIMILARITY: Belongs to the EMX homeobox family. {ECO:0000305}.
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DR EMBL; BC104322; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC104323; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; X68881; CAA48752.1; -; mRNA.
DR CCDS; CCDS20290.1; -.
DR PIR; S29085; S29085.
DR RefSeq; NP_034261.1; NM_010131.2.
DR AlphaFoldDB; Q04742; -.
DR SMR; Q04742; -.
DR BioGRID; 199442; 16.
DR IntAct; Q04742; 15.
DR STRING; 10090.ENSMUSP00000046026; -.
DR PaxDb; Q04742; -.
DR PeptideAtlas; Q04742; -.
DR PRIDE; Q04742; -.
DR ProteomicsDB; 275615; -.
DR Antibodypedia; 1790; 200 antibodies from 29 providers.
DR DNASU; 13796; -.
DR Ensembl; ENSMUST00000045942; ENSMUSP00000046026; ENSMUSG00000033726.
DR GeneID; 13796; -.
DR KEGG; mmu:13796; -.
DR UCSC; uc009cpi.1; mouse.
DR CTD; 2016; -.
DR MGI; MGI:95387; Emx1.
DR VEuPathDB; HostDB:ENSMUSG00000033726; -.
DR eggNOG; KOG0843; Eukaryota.
DR GeneTree; ENSGT00940000161476; -.
DR HOGENOM; CLU_049668_1_0_1; -.
DR InParanoid; Q04742; -.
DR OMA; ETVNHPS; -.
DR OrthoDB; 1189098at2759; -.
DR PhylomeDB; Q04742; -.
DR TreeFam; TF317015; -.
DR BioGRID-ORCS; 13796; 1 hit in 73 CRISPR screens.
DR PRO; PR:Q04742; -.
DR Proteomes; UP000000589; Chromosome 6.
DR RNAct; Q04742; protein.
DR Bgee; ENSMUSG00000033726; Expressed in cerebral cortex ventricular layer and 67 other tissues.
DR Genevisible; Q04742; MM.
DR GO; GO:0005694; C:chromosome; ISO:MGI.
DR GO; GO:0005730; C:nucleolus; ISO:MGI.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0007420; P:brain development; IMP:MGI.
DR GO; GO:0048854; P:brain morphogenesis; IGI:MGI.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0021987; P:cerebral cortex development; IMP:MGI.
DR GO; GO:0021895; P:cerebral cortex neuron differentiation; IGI:MGI.
DR GO; GO:0021796; P:cerebral cortex regionalization; IGI:MGI.
DR GO; GO:0048872; P:homeostasis of number of cells; IGI:MGI.
DR GO; GO:0001701; P:in utero embryonic development; IGI:MGI.
DR GO; GO:0060563; P:neuroepithelial cell differentiation; IGI:MGI.
DR GO; GO:0030182; P:neuron differentiation; IMP:MGI.
DR GO; GO:1990138; P:neuron projection extension; IGI:MGI.
DR GO; GO:0009791; P:post-embryonic development; IMP:MGI.
DR GO; GO:0060019; P:radial glial cell differentiation; IGI:MGI.
DR GO; GO:0070445; P:regulation of oligodendrocyte progenitor proliferation; IGI:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0009410; P:response to xenobiotic stimulus; IDA:MGI.
DR GO; GO:0021537; P:telencephalon development; IGI:MGI.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..257
FT /note="Homeobox protein EMX1"
FT /id="PRO_0000048867"
FT DNA_BIND 159..218
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 216..257
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 216..232
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 257 AA; 28173 MW; EC0051BC674430DF CRC64;
MFQPAAKRGF TIESLVAKDG GTGGSPGSGG AGSHPLAVAA SEEPLRPTAL NYPHPSAAET
AFVSGFPAAA AAGAGRSLYG GPELVFPEAM NHPALTVHPA HQLGSSSLQP PHSFFSAQHR
DPLHFYPWVL RNRFFGHRFQ ASDVPQDGLL LHGPFARKPK RIRTAFSPSQ LLRLERAFEK
NHYVVGAERK QLAGSLSLSE TQVKVWFQNR RTKYKRQKLE EEGPESEQKK KGSHHINRWR
IATKQANGED IDVTSND
