EMX1_HUMAN
ID EMX1_HUMAN Reviewed; 290 AA.
AC Q04741; Q0D2P0; Q53T30; Q86XB0;
DT 01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
DT 02-JUN-2021, sequence version 3.
DT 03-AUG-2022, entry version 172.
DE RecName: Full=Homeobox protein EMX1 {ECO:0000305};
DE AltName: Full=Empty spiracles homolog 1;
DE AltName: Full=Empty spiracles-like protein 1;
GN Name=EMX1 {ECO:0000312|HGNC:HGNC:3340};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 171-290.
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 [4]
RP SUBCELLULAR LOCATION, AND INTERACTION WITH WRD11.
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 [5]
RP 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 -!- 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 -!- INTERACTION:
CC Q04741; PRO_0000406137 [P10071]: GLI3; NbExp=3; IntAct=EBI-26568770, EBI-26568850;
CC Q04741; Q9BZH6: WDR11; NbExp=2; IntAct=EBI-26568770, EBI-2009923;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108,
CC ECO:0000269|PubMed:20887964}. Cytoplasm {ECO:0000269|PubMed:20887964}.
CC Note=Might be shuttling between the nucleus and the cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q04741-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q04741-2; Sequence=VSP_022145, VSP_022146;
CC -!- TISSUE SPECIFICITY: Cerebral cortex.
CC -!- SIMILARITY: Belongs to the EMX homeobox family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AC012366; AAY14744.1; -; Genomic_DNA.
DR EMBL; BC037242; AAH37242.1; -; mRNA.
DR EMBL; BC045762; AAH45762.2; -; mRNA.
DR EMBL; X68879; CAA48750.1; -; mRNA.
DR CCDS; CCDS1921.2; -. [Q04741-1]
DR PIR; S22721; S22721.
DR RefSeq; NP_004088.2; NM_004097.2. [Q04741-1]
DR RefSeq; XP_011530999.1; XM_011532697.2. [Q04741-2]
DR AlphaFoldDB; Q04741; -.
DR SMR; Q04741; -.
DR BioGRID; 108331; 8.
DR IntAct; Q04741; 9.
DR MINT; Q04741; -.
DR STRING; 9606.ENSP00000258106; -.
DR BioMuta; EMX1; -.
DR MassIVE; Q04741; -.
DR PaxDb; Q04741; -.
DR PeptideAtlas; Q04741; -.
DR PRIDE; Q04741; -.
DR Antibodypedia; 1790; 200 antibodies from 29 providers.
DR DNASU; 2016; -.
DR Ensembl; ENST00000258106.11; ENSP00000258106.6; ENSG00000135638.14. [Q04741-1]
DR GeneID; 2016; -.
DR KEGG; hsa:2016; -.
DR MANE-Select; ENST00000258106.11; ENSP00000258106.6; NM_004097.3; NP_004088.2.
DR UCSC; uc002sin.1; human. [Q04741-1]
DR CTD; 2016; -.
DR DisGeNET; 2016; -.
DR GeneCards; EMX1; -.
DR HGNC; HGNC:3340; EMX1.
DR HPA; ENSG00000135638; Group enriched (brain, kidney).
DR MIM; 600034; gene.
DR neXtProt; NX_Q04741; -.
DR OpenTargets; ENSG00000135638; -.
DR PharmGKB; PA27777; -.
DR VEuPathDB; HostDB:ENSG00000135638; -.
DR eggNOG; KOG0843; Eukaryota.
DR GeneTree; ENSGT00940000161476; -.
DR HOGENOM; CLU_049668_1_0_1; -.
DR InParanoid; Q04741; -.
DR OMA; ETVNHPS; -.
DR OrthoDB; 1189098at2759; -.
DR PhylomeDB; Q04741; -.
DR TreeFam; TF317015; -.
DR PathwayCommons; Q04741; -.
DR SignaLink; Q04741; -.
DR SIGNOR; Q04741; -.
DR BioGRID-ORCS; 2016; 12 hits in 1096 CRISPR screens.
DR ChiTaRS; EMX1; human.
DR GeneWiki; EMX1; -.
DR GenomeRNAi; 2016; -.
DR Pharos; Q04741; Tbio.
DR PRO; PR:Q04741; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q04741; protein.
DR Bgee; ENSG00000135638; Expressed in ganglionic eminence and 73 other tissues.
DR ExpressionAtlas; Q04741; baseline and differential.
DR Genevisible; Q04741; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005694; C:chromosome; IDA:HPA.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
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; IDA:ARUK-UCL.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR GO; GO:0048854; P:brain morphogenesis; IEA:Ensembl.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0021895; P:cerebral cortex neuron differentiation; IEA:Ensembl.
DR GO; GO:0021796; P:cerebral cortex regionalization; IEA:Ensembl.
DR GO; GO:0048872; P:homeostasis of number of cells; IEA:Ensembl.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0060563; P:neuroepithelial cell differentiation; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:1990138; P:neuron projection extension; IEA:Ensembl.
DR GO; GO:0009791; P:post-embryonic development; IEA:Ensembl.
DR GO; GO:0060019; P:radial glial cell differentiation; IEA:Ensembl.
DR GO; GO:0070445; P:regulation of oligodendrocyte progenitor proliferation; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0009410; P:response to xenobiotic stimulus; IEA:Ensembl.
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 Alternative splicing; Cytoplasm; Developmental protein; DNA-binding;
KW Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..290
FT /note="Homeobox protein EMX1"
FT /id="PRO_0000048866"
FT DNA_BIND 192..251
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 249..290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 249..265
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..171
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022145"
FT VAR_SEQ 172..173
FT /note="FQ -> MV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022146"
SQ SEQUENCE 290 AA; 31295 MW; 0DACBDA87DCC813D CRC64;
MCLAGCTPRK AAAPGRGALP RARLPRTAPA AATMFQPAAK RGFTIESLVA KDGGTGGGTG
GGGAGSHLLA AAASEEPLRP TALNYPHPSA AEAAFVSGFP AAAAAGAGRS LYGGPELVFP
EAMNHPALTV HPAHQLGASP LQPPHSFFGA QHRDPLHFYP WVLRNRFFGH RFQASDVPQD
GLLLHGPFAR KPKRIRTAFS PSQLLRLERA FEKNHYVVGA ERKQLAGSLS LSETQVKVWF
QNRRTKYKRQ KLEEEGPESE QKKKGSHHIN RWRIATKQAN GEDIDVTSND
