{ "uniprot_canonical_ac": "Q04741-1", "uniprot_ac": "Q04741", "uniprot_id": "EMX1_HUMAN", "mass": { "chemical_mass": 31295.0, "monoisotopic_mass": 31295.0 }, "refseq": { "ac": "NP_004088", "name": "homeobox protein EMX1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088" }, "gene_names": [ { "name": "EMX1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q04741", "id": "Q04741" }, { "name": "EMX1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088", "id": "NP_004088" }, { "name": "hCG_40556", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q04741", "id": "Q04741" } ], "protein_names": [ { "name": "Homeobox protein EMX1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q04741" }, { "name": "Empty spiracles homolog 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q04741" }, { "name": "Empty spiracles-like protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q04741" }, { "name": "empty spiracles-like protein 1; empty spiracles homolog 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088", "id": "NP_004088" }, { "name": "homeobox protein EMX1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088", "id": "NP_004088" } ], "function": [ { "annotation": "EMX1 functions as a tumor inhibitor in spinal cord glioma through transcriptional suppression of WASF2 and inactivation of the Wnt/beta-catenin axis.", "evidence": [ { "database": "RefSeq", "id": "NP_004088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088" }, { "database": "PubMed", "id": "35849030", "url": "https://glygen.org/publication/PubMed/35849030" } ] }, { "annotation": "Empty spiracles homeobox genes EMX1 and EMX2 regulate WNT pathway activation in sarcomagenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088" }, { "database": "PubMed", "id": "34364391", "url": "https://glygen.org/publication/PubMed/34364391" } ] }, { "annotation": "Regulation of sarcomagenesis by the empty spiracles homeobox genes EMX1 and EMX2. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088" }, { "database": "PubMed", "id": "34016958", "url": "https://glygen.org/publication/PubMed/34016958" } ] }, { "annotation": "Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.", "evidence": [ { "database": "UniProtKB", "id": "Q04741", "url": "https://www.uniprot.org/uniprot/Q04741#function" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000135638", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135638" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000135638", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135638" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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"database": "Bgee", "id": "ENSG00000135638", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135638" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000135638", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135638" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "35.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000135638", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000135638" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "42.44", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000135638", "url": 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", 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"MVASDVPQDGLLLHGPFARKPKRIRTAFSPSQLLRLERAFEKNHYVVGAERKQLAGSLSLSETQVKVWFQNRRTKYKRQKLEEEGPESEQKKKGSHHINRWRIATKQANGEDIDVTSND", "length": 119, "header": "sp|Q04741-2|EMX1_HUMAN Isoform 2 of Homeobox protein EMX1 OS=Homo sapiens OX=9606 GN=EMX1 PE=1 SV=3 CANONICAL=Q04741-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex.", "journal": "EMBO J.", "date": "1992", "authors": "Simeone A, Gulisano M, Acampora D, Stornaiuolo A, Rambaldi M, Boncinelli E", "evidence": [ { "database": "UniProtKB", "id": "Q04741", "url": "https://www.uniprot.org/uniprot/Q04741" } ], "reference": [ { "type": "PubMed", "id": "1352754", "url": "https://glygen.org/publication/PubMed/1352754" } ] }, { "title": "WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2010", "authors": "Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC", "evidence": [ { "database": "UniProtKB", "id": "Q04741", "url": "https://www.uniprot.org/uniprot/Q04741" } ], "reference": [ { "type": "PubMed", "id": "20887964", "url": "https://glygen.org/publication/PubMed/20887964" } ] }, { "title": "WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.", "journal": "EMBO Rep.", "date": "2018", "authors": "Kim YJ, Osborn DP, Lee JY, Araki M, Araki K, Mohun T, Kansakoski J, Brandstack N, Kim HT, Miralles F, Kim CH, Brown NA, Kim HG, Martinez-Barbera JP, Ataliotis P, Raivio T, Layman LC, Kim SH", "evidence": [ { "database": "UniProtKB", "id": "Q04741", "url": "https://www.uniprot.org/uniprot/Q04741" } ], "reference": [ { "type": "PubMed", "id": "29263200", "url": "https://glygen.org/publication/PubMed/29263200" } ] }, { "title": "Regulation of sarcomagenesis by the empty spiracles homeobox genes EMX1 and EMX2.", "journal": "Cell death & disease", "date": "2021", "authors": "Jimenez-Garcia MP, Lucena-Cacace A, Otero-Albiol D, Carnero A", "evidence": [ { "database": "RefSeq", "id": "NP_004088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088" } ], "reference": [ { "type": "PubMed", "id": "34016958", "url": "https://glygen.org/publication/PubMed/34016958" } ] }, { "title": "Empty spiracles homeobox genes EMX1 and EMX2 regulate WNT pathway activation in sarcomagenesis.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2021", "authors": "Jimenez-Garcia MP, Lucena-Cacace A, Otero-Albiol D, Carnero A", "evidence": [ { "database": "RefSeq", "id": "NP_004088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088" } ], "reference": [ { "type": "PubMed", "id": "34364391", "url": "https://glygen.org/publication/PubMed/34364391" } ] }, { "title": "EMX1 functions as a tumor inhibitor in spinal cord glioma through transcriptional suppression of WASF2 and inactivation of the Wnt/beta-catenin axis.", "journal": "Brain and behavior", "date": "2022", "authors": "Han Z, Mou Z, Jing Y, Jiang R, Sun T", "evidence": [ { "database": "RefSeq", "id": "NP_004088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004088" } ], "reference": [ { "type": "PubMed", "id": "35849030", "url": "https://glygen.org/publication/PubMed/35849030" } ] } ], "pathway": [ { "id": "hsa:2016", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2016", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZV90-1", "protein_name": "Empty spiracles homeobox 1", "gene_name": "Emx1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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