{ "uniprot_canonical_ac": "A8MZ59-2", "uniprot_ac": "A8MZ59", "uniprot_id": "LEUTX_HUMAN", "mass": { "chemical_mass": 22358.0, "monoisotopic_mass": 22358.0 }, "refseq": { "ac": "NP_001137304", "name": "paired-like homeodomain transcription factor LEUTX isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137304" }, "gene_names": [ { "name": "LEUTX", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8MZ59", "id": "A8MZ59" }, { "name": "LEUTX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137304", "id": "NP_001137304" } ], "protein_names": [ { "name": "Paired-like homeodomain transcription factor LEUTX", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8MZ59" }, { "name": "Leucine-twenty homeobox", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MZ59" }, { "name": "PRD-LIKE homeobox transcription factor LEUTX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MZ59" }, { "name": "Paired-like homeobox transcription factor LEUTX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MZ59" }, { "name": "paired-like homeodomain transcription factor LEUTX isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137304", "id": "NP_001137304" }, { "name": "putative leucine-twenty homeobox; arginine-fifty homeobox-like pseudogene; PRD-LIKE homeobox transcription factor LEUTX; paired-like homeobox transcription factor LEUTX; paired-like homeodomain transcription factor LEUTX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137304", "id": "NP_001137304" } ], "function": [ { "annotation": "Inactive transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "A8MZ59", "url": "https://www.uniprot.org/uniprot/A8MZ59#function" }, { "database": "PubMed", "id": "27578796", "url": "https://glygen.org/publication/PubMed/27578796" } ] }, { "annotation": "Paired-like homeobox transcription factor involved in embryogenesis (PubMed:27578796, PubMed:30479355). May act as a regulator of embryo genome activation (PubMed:27578796). Binds to a 36 bp DNA elements containing a 5'-TAATCC-3' sequence motif, referred to as EEA motif (EGA-enriched Alu-motif), present in the promoters of target genes activated in early embryos (PubMed:27578796, PubMed:30479355).", "evidence": [ { "database": "UniProtKB", "id": "A8MZ59", "url": "https://www.uniprot.org/uniprot/A8MZ59#function" }, { "database": "PubMed", "id": "30479355", "url": "https://glygen.org/publication/PubMed/30479355" }, { "database": "PubMed", "id": "27578796", "url": "https://glygen.org/publication/PubMed/27578796" } ] }, { "annotation": "Rapid Evolution of the Embryonically Expressed Homeobox Gene LEUTX within Primates.", "evidence": [ { "database": "RefSeq", "id": "NP_001137304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137304" }, { "database": "PubMed", "id": "37232378", "url": "https://glygen.org/publication/PubMed/37232378" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 54, "end_pos": 54, "sequence_org": "I", "sequence_mut": "T", "comment": "Increased transcriptional activity; when associated with Ala-61-Val, restores wild-type transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "A8MZ59", "url": "https://www.uniprot.org/uniprot/A8MZ59" }, { "database": "PubMed", "id": "30479355", "url": "https://glygen.org/publication/PubMed/30479355" } ] }, { "start_pos": 61, "end_pos": 61, "sequence_org": "A", "sequence_mut": "V", "comment": "Abolished catalytic activity; when assiociated with Ile-54-Thr, restores wild-type transcriptional activity.", "evidence": [ { "database": "UniProtKB", "id": "A8MZ59", "url": "https://www.uniprot.org/uniprot/A8MZ59" }, { "database": "PubMed", "id": "30479355", "url": "https://glygen.org/publication/PubMed/30479355" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "25.87", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "16.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "14.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "14.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "14.63", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000213921", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000213921" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A8MZ59", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MZ59" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A8MZ59", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MZ59" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A8MZ59", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MZ59" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A8MZ59", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MZ59" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in 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Classification" ] }, { "id": "PF00046", "url": "http://pfam.xfam.org/family/PF00046", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A8MZ59", "url": "https://pharos.nih.gov/targets/A8MZ59", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A8MZ59", "url": "http://purl.obolibrary.org/obo/PR_A8MZ59", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001137304", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137304", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A8MZ59", "url": "https://www.uniprot.org/uniprot/A8MZ59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MZ59-1", "url": "https://www.uniprot.org/uniprot/A8MZ59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MZ59-2", "url": "https://www.uniprot.org/uniprot/A8MZ59-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFEGPRRYRRPRTRFLSKQLTALRELLEKTMHPSLATMGKLASKLQLDLSVVKIWFKNQRAKWKRQQRQQMQTRPSLGPANQTTSVKKEETPSAITTANIRPVSPGISDANDHDLREPSGIKNPGGASASARVSSWDSQSYDIEQICLGASNPPWASTLFEIDEFVKIYDLPGEDDTSSLNQYLFPVCLEYDQLQSSV", "length": 198, "header": "sp|A8MZ59-2|LEUTX_HUMAN Isoform 2 of Paired-like homeodomain transcription factor LEUTX OS=Homo sapiens OX=9606 GN=LEUTX PE=1 SV=4 CANONICAL=A8MZ59-2" }, "isoforms": [ { "isoform_ac": "A8MZ59-1", "url": "", "sequence": { "sequence": "MHPSLATMGKLASKLQLDLSVVKIWFKNQRAKWKRQQRQQMQTRPSLGPANQTTSVKKEETPSAITTANIRPVSPGISDANDHDLREPSGIKNPGGASASARVSSWDSQSYDIEQICLGASNPPWASTLFEIDEFVKIYDLPGEDDTSSLNQYLFPVCLEYDQLQSSV", "length": 168, "header": "sp|A8MZ59-1|LEUTX_HUMAN Isoform 1 of Paired-like homeodomain transcription factor LEUTX OS=Homo sapiens OX=9606 GN=LEUTX PE=1 SV=4 CANONICAL=A8MZ59-2" }, "locus": { "chromosome": "HG2021_PATCH", "start_pos": 46008, "end_pos": 44486, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000629267.1", "url": "https://www.ensembl.org/id/ENST00000629267.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000486698.1", "url": "https://www.ensembl.org/id/ENSP00000486698.1" } ] } }, { "isoform_ac": "A8MZ59-2", "url": "", "sequence": { "sequence": "MFEGPRRYRRPRTRFLSKQLTALRELLEKTMHPSLATMGKLASKLQLDLSVVKIWFKNQRAKWKRQQRQQMQTRPSLGPANQTTSVKKEETPSAITTANIRPVSPGISDANDHDLREPSGIKNPGGASASARVSSWDSQSYDIEQICLGASNPPWASTLFEIDEFVKIYDLPGEDDTSSLNQYLFPVCLEYDQLQSSV", "length": 198, "header": "sp|A8MZ59-2|LEUTX_HUMAN Isoform 2 of Paired-like homeodomain transcription factor LEUTX OS=Homo sapiens OX=9606 GN=LEUTX PE=1 SV=4 CANONICAL=A8MZ59-2" }, "locus": { "chromosome": "HG2021_PATCH", "start_pos": 46008, "end_pos": 38797, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640845.1", "url": "https://www.ensembl.org/id/ENST00000640845.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491781.1", "url": "https://www.ensembl.org/id/ENSP00000491781.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "A8MZ59", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MZ59" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Classification and nomenclature of all human homeobox genes.", "journal": "BMC Biol.", "date": "2007", "authors": "Holland PW, Booth HA, Bruford EA", "evidence": [ { "database": "UniProtKB", "id": "A8MZ59", "url": "https://www.uniprot.org/uniprot/A8MZ59" } ], "reference": [ { "type": "PubMed", "id": "17963489", "url": "https://glygen.org/publication/PubMed/17963489" } ] }, { "title": "DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.", "journal": "Developmental cell", "date": "2012-01-17", "authors": "Geng Linda N, Yao Zizhen, Snider Lauren, Fong Abraham P, Cech Jennifer N, Young Janet M, van der Maarel Silvere M, Ruzzo Walter L, Gentleman Robert C, Tawil Rabi, Tapscott Stephen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "22209328", "url": "https://glygen.org/publication/PubMed/22209328" } ] }, { "title": "Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells.", "journal": "Nature structural & molecular biology", "date": "2013-09", "authors": "Yan Liying, Yang Mingyu, Guo Hongshan, Yang Lu, Wu Jun, Li Rong, Liu Ping, Lian Ying, Zheng Xiaoying, Yan Jie, Huang Jin, Li Ming, Wu Xinglong, Wen Lu, Lao Kaiqin, Li Ruiqiang, Qiao Jie, Tang Fuchou", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "23934149", "url": "https://glygen.org/publication/PubMed/23934149" } ] }, { "title": "DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.", "journal": "PLoS genetics", "date": "2013-11", "authors": "Young Janet M, Whiddon Jennifer L, Yao Zizhen, Kasinathan Bhavatharini, Snider Lauren, Geng Linda N, Balog Judit, Tawil Rabi, van der Maarel Silv\u00e8re M, Tapscott Stephen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "24278031", "url": "https://glygen.org/publication/PubMed/24278031" } ] }, { "title": "Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development.", "journal": "Nature communications", "date": "2015-09-11", "authors": "T\u00f6h\u00f6nen Virpi, Katayama Shintaro, Vesterlund Liselotte, Jouhilahti Eeva-Mari, Sheikhi Mona, Madissoon Elo, Filippini-Cattaneo Giuditta, Jaconi Marisa, Johnsson Anna, B\u00fcrglin Thomas R, Linnarsson Sten, Hovatta Outi, Kere Juha", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "26360614", "url": "https://glygen.org/publication/PubMed/26360614" } ] }, { "title": "DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes.", "journal": "Nucleic acids research", "date": "2016", "authors": "Choi SH, Gearhart MD, Cui Z, Bosnakovski D, Kim M, Schennum N, Kyba M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "26951377", "url": "https://glygen.org/publication/PubMed/26951377" } ] }, { "title": "Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos.", "journal": "Cell", "date": "2016-05-05", "authors": "Petropoulos Sophie, Edsg\u00e4rd Daniel, Reinius Bj\u00f6rn, Deng Qiaolin, Panula Sarita Pauliina, Codeluppi Simone, Plaza Reyes Alvaro, Linnarsson Sten, Sandberg Rickard, Lanner Fredrik", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "27062923", "url": "https://glygen.org/publication/PubMed/27062923" } ] }, { "title": "The human PRD-like homeobox gene LEUTX has a central role in embryo genome activation.", "journal": "Development (Cambridge, England)", "date": "2016-10-01", "authors": "Jouhilahti Eeva-Mari, Madissoon Elo, Vesterlund Liselotte, T\u00f6h\u00f6nen Virpi, Krjut\u0161kov Kaarel, Plaza Reyes Alvaro, Petropoulos Sophie, M\u00e5nsson Robert, Linnarsson Sten, B\u00fcrglin Thomas, Lanner Fredrik, Hovatta Outi, Katayama Shintaro, Kere Juha", "evidence": [ { "database": "UniProtKB", "id": "A8MZ59", "url": "https://www.uniprot.org/uniprot/A8MZ59" } ], "reference": [ { "type": "PubMed", "id": "27578796", "url": "https://glygen.org/publication/PubMed/27578796" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "A8MZ59", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A8MZ59" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "title": "DUX-family transcription factors regulate zygotic genome activation in placental mammals.", "journal": "Nature genetics", "date": "2017-06", "authors": "De Iaco Alberto, Planet Evarist, Coluccio Andrea, Verp Sonia, Duc Julien, Trono Didier", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "28459456", "url": "https://glygen.org/publication/PubMed/28459456" } ] }, { "title": "Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons.", "journal": "Nature genetics", "date": "2017-06", "authors": "Hendrickson Peter G, Dor\u00e1is Jessie A, Grow Edward J, Whiddon Jennifer L, Lim Jong-Won, Wike Candice L, Weaver Bradley D, Pflueger Christian, Emery Benjamin R, Wilcox Aaron L, Nix David A, Peterson C Matthew, Tapscott Stephen J, Carrell Douglas T, Cairns Bradley R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": 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