{ "uniprot_canonical_ac": "Q99607-1", "uniprot_ac": "Q99607", "uniprot_id": "ELF4_HUMAN", "mass": { "chemical_mass": 70730.0, "monoisotopic_mass": 70730.0 }, "refseq": { "ac": "NP_001120669", "name": "ETS-related transcription factor Elf-4", "summary": "The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" }, "gene_names": [ { "name": "ELF4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q99607", "id": "Q99607" }, { "name": "AIFBL2; ELFR; MEF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669", "id": "NP_001120669" }, { "name": "ELF4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669", "id": "NP_001120669" }, { "name": "ELFR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q99607", "id": "Q99607" }, { "name": "MEF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q99607", "id": "Q99607" } ], "protein_names": [ { "name": "ETS-related transcription factor Elf-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q99607" }, { "name": "E74-like factor 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q99607" }, { "name": "ETS-related transcription factor Elf-4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669", "id": "NP_001120669" }, { "name": "Myeloid Elf-1-like factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q99607" }, { "name": "myeloid Elf-1-like factor; E74-like factor 4 (ets domain transcription factor)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669", "id": "NP_001120669" } ], "function": [ { "annotation": "A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" }, { "database": "PubMed", "id": "36823308", "url": "https://glygen.org/publication/PubMed/36823308" } ] }, { "annotation": "An ELF4 hypomorphic variant results in NK cell deficiency. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" }, { "database": "PubMed", "id": "36477361", "url": "https://glygen.org/publication/PubMed/36477361" } ] }, { "annotation": "ELF4 is a critical component of a miRNA-transcription factor network and is a bridge regulator of glioblastoma receptor signaling and lipid dynamics.", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" }, { "database": "PubMed", "id": "35862252", "url": "https://glygen.org/publication/PubMed/35862252" } ] }, { "annotation": "FGF19-mediated ELF4 overexpression promotes colorectal cancer metastasis through transactivating FGFR4 and SRC. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" }, { "database": "PubMed", "id": "36923538", "url": "https://glygen.org/publication/PubMed/36923538" } ] }, { "annotation": "Functional dissection of the transactivation mechanisms of the ETS transcription factor MEF", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" }, { "database": "PubMed", "id": "12151102", "url": "https://glygen.org/publication/PubMed/12151102" } ] }, { "annotation": "Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" }, { "database": "PubMed", "id": "35266071", "url": "https://glygen.org/publication/PubMed/35266071" } ] }, { "annotation": "MEF is an important regulator of IL-8 expression Erratum:[J Biol Chem. 2006 Mar 31;281(13):8996]", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" }, { "database": "PubMed", "id": "14625302", "url": "https://glygen.org/publication/PubMed/14625302" } ] }, { "annotation": "The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" } ] }, { "annotation": "Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter (By similarity). Transactivates the PRF1 promoter in natural killer (NK) cells and CD8+ T cells (PubMed:34326534). Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2 (By similarity). Controls cell senescence in a p53-dependent manner. Can also promote cellular transformation through inhibition of the p16 pathway. Is a transcriptional regulator of inflammation, controlling T-helper 17 (Th17) cells and macrophage inflammatory responses. Required for sustained transcription of anti-inflammatory genes, including IL1RN (PubMed:34326534, PubMed:35266071). Is a negative regulator of pro-inflammatory cytokines expression including IL17A, IL1B, IL6, TNFA and CXCL1 (PubMed:34326534, PubMed:35266071). Down-regulates expression of TREM1, a cell surface receptor involved in the amplification of inflammatory responses (By similarity) (PubMed:34326534, PubMed:35266071).", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607#function" }, { "database": "PubMed", "id": "8895518", "url": "https://glygen.org/publication/PubMed/8895518" }, { "database": "PubMed", "id": "10207087", "url": "https://glygen.org/publication/PubMed/10207087" }, { "database": "PubMed", "id": "14976184", "url": "https://glygen.org/publication/PubMed/14976184" }, { "database": "PubMed", "id": "35266071", "url": "https://glygen.org/publication/PubMed/35266071" }, { "database": "PubMed", "id": "19380490", "url": "https://glygen.org/publication/PubMed/19380490" }, { "database": "PubMed", "id": "34326534", "url": "https://glygen.org/publication/PubMed/34326534" }, { "database": "PubMed", "id": "9524226", "url": "https://glygen.org/publication/PubMed/9524226" }, { "database": "PubMed", "id": "14625302", "url": "https://glygen.org/publication/PubMed/14625302" } ] } ], "disease": [ { "disease_id": "MONDO:0024770", "recommended_name": { "id": "MONDO:0024770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024770", "name": "autoinflammatory syndrome, familial, X-linked, Behcet-like 2", "description": "" }, "synonyms": [ { "id": "MONDO:0024770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024770", "name": "AIFBL2", "description": "" }, { "id": "MONDO:0024770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024770", "name": "autoinflammatory syndrome, familial, X-linked, Behcet-like 2", "description": "" }, { "id": "MONDO:0024770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024770", "name": "deficiency 1n ELF4, X-linked", "description": "" }, { "id": "MIM:301074", "resource": "MIM", "url": "https://www.omim.org/entry/301074", "name": "Autoinflammatory syndrome, familial, X-linked, Behcet-like 2", "description": "Autoinflammatory syndrome, familial, X-linked, Behcet-like 2" } ], "evidence": [ { "id": "301074", "database": "MIM", "url": "https://www.omim.org/entry/301074" } ] } ], "snv": [ { "evidence": [ { "id": "rs775647005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775647005" }, { "id": "rs775647005", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775647005" }, { "id": "rs775647005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775647005" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 161, "end_pos": 161, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "X", "chr_pos": "130072275", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768248298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768248298" }, { "id": "rs768248298", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768248298" }, { "id": "rs768248298", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768248298" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 186, "end_pos": 186, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "X", "chr_pos": "130071395", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753862490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753862490" }, { "id": "rs753862490", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753862490" }, { "id": "rs753862490", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753862490#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 496, "end_pos": 496, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "X", "chr_pos": "130067227", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P496", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q99607", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q99607" }, { "id": "rs755967068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755967068" }, { "id": "rs755967068", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755967068" }, { "id": "rs755967068", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755967068" }, { "id": "rs755967068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755967068" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 591, "end_pos": 591, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NLS).", "chr_id": "X", "chr_pos": "130066941", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P591", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs780049685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780049685" }, { "id": "rs780049685", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780049685" }, { "id": "rs780049685", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780049685" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 591, "end_pos": 591, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "X", "chr_pos": "130066942", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P591", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q99607", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q99607" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 652, "end_pos": 652, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPT->NHT).", "chr_id": "X", "chr_pos": "130066758", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P652", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 211, "end_pos": 211, "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay.", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "PubMed", "id": "35266071", "url": "https://glygen.org/publication/PubMed/35266071" } ] }, { "start_pos": 212, "end_pos": 212, "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay.", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "PubMed", "id": "35266071", "url": "https://glygen.org/publication/PubMed/35266071" } ] }, { "start_pos": 219, "end_pos": 219, "sequence_org": "L", "sequence_mut": "A", "comment": "Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay.", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "PubMed", "id": "35266071", "url": "https://glygen.org/publication/PubMed/35266071" } ] }, { "start_pos": 239, "end_pos": 239, "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay.", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "PubMed", "id": "35266071", "url": "https://glygen.org/publication/PubMed/35266071" } ] }, { "start_pos": 251, "end_pos": 251, "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay. Loss of INFB1 promoter binding. 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"BioXpress", "id": "Q99607", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q99607" } ], "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": 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"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", 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"description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q99607" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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Cell. Biol.", "date": "1999", "authors": "Mao S, Frank RC, Zhang J, Miyazaki Y, Nimer SD", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" } ], "reference": [ { "type": "PubMed", "id": "10207087", "url": "https://glygen.org/publication/PubMed/10207087" } ] }, { "title": "Functional dissection of the ETS transcription factor MEF.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Suico MA, Koyanagi T, Ise S, Lu Z, Hisatsune A, Seki Y, Shuto T, Isohama Y, Miyata T, Kai H", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" } ], "reference": [ { "type": "PubMed", "id": "12151102", "url": "https://glygen.org/publication/PubMed/12151102" } ] }, { "title": "Myeloid ELF1-like factor is a potent activator of interleukin-8 expression in hematopoietic cells.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Hedvat CV, Yao J, Sokolic RA, Nimer SD", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" } ], "reference": [ { "type": "PubMed", "id": "14625302", "url": "https://glygen.org/publication/PubMed/14625302" } ] }, { "title": "Myeloid Elf-1-like factor, an ETS transcription factor, up-regulates lysozyme transcription in epithelial cells through interaction with promyelocytic leukemia protein.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Lu Z., Nakao M., Matsuzaki K., Yoshida H., Kai H., Shuto T., Suico M.A., Li J.-D., Seki Y., Uchikawa T.", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" } ], "reference": [ { "type": "PubMed", "id": "14976184", "url": "https://glygen.org/publication/PubMed/14976184" } ] }, { "title": "ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22).", "journal": "Leuk. Res.", "date": "2006", "authors": "Morton C.C., Dal Cin P., Amrein P.C., Ferry J.A., Moore S.D., Offor O.", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" } ], "reference": [ { "type": "PubMed", "id": "16303180", "url": "https://glygen.org/publication/PubMed/16303180" } ] }, { "title": "The ETS protein MEF is regulated by phosphorylation-dependent proteolysis via the protein-ubiquitin ligase SCFSkp2.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Liu Y, Hedvat CV, Mao S, Zhu XH, Yao J, Nguyen H, Koff A, Nimer SD", "evidence": [ { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "16581786", "url": "https://glygen.org/publication/PubMed/16581786" } ] }, { "title": "Phosphopeptide enrichment by aliphatic hydroxy acid-modified metal oxide chromatography for nano-LC-MS/MS in proteomics applications.", "journal": "Molecular & cellular proteomics : MCP", "date": "2007", "authors": "Sugiyama N, Masuda T, Shinoda K, Nakamura A, Tomita M, Ishihama Y", "evidence": [ { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "ELF4/MEF activates MDM2 expression and blocks oncogene-induced p16 activation to promote transformation.", "journal": "Mol. Cell. Biol.", "date": "2009", "authors": "Liu Y., Izumi M., Ohyashiki K., Miyata Y., Elf S., Menendez S., Nimer S.D., Sashida G.", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" } ], "reference": [ { "type": "PubMed", "id": "19380490", "url": "https://glygen.org/publication/PubMed/19380490" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "PTH regulates myleoid ELF-1-like factor (MEF)-induced MAB-21-like-1 (MAB21L1) expression through the JNK1 pathway.", "journal": "Journal of cellular biochemistry", "date": "2011", "authors": "Kim BG, Park YJ, Libermann TA, Cho JY", "evidence": [ { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "21465527", "url": "https://glygen.org/publication/PubMed/21465527" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q99607", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q99607" }, { "database": "O-GlcNAc Atlas", "id": "Q99607", "url": "https://oglcnac.org/atlas/detail/Q99607" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "HIPK2 is necessary for type I interferon-mediated antiviral immunity.", "journal": "Science signaling", "date": "2019", "authors": "Cao L, Yang G, Gao S, Jing C, Montgomery RR, Yin Y, Wang P, Fikrig E, You F", "evidence": [ { "database": "iPTMnet", "id": "Q99607", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q99607" } ], "reference": [ { "type": "PubMed", "id": "30890658", "url": "https://glygen.org/publication/PubMed/30890658" } ] }, { "title": "Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.", "journal": "Nat. Immunol.", "date": "2021", "authors": "Tyler PM, Bucklin ML, Zhao M, Maher TJ, Rice AJ, Ji W, Warner N, Pan J, Morotti R, McCarthy P, Griffiths A, van Rossum AMC, Hollink IHIM, Dalm VASH, Catanzaro J, Lakhani SA, Muise AM, Lucas CL", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" } ], "reference": [ { "type": "PubMed", "id": "34326534", "url": "https://glygen.org/publication/PubMed/34326534" } ] }, { "title": "Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.", "journal": "J. Clin. Immunol.", "date": "2022", "authors": "Sun G, Qiu L, Yu L, An Y, Ding Y, Zhou L, Wu J, Yang X, Zhang Z, Tang X, Xia H, Cao L, You F, Zhao X, Du H", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" }, { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" } ], "reference": [ { "type": "PubMed", "id": "35266071", "url": "https://glygen.org/publication/PubMed/35266071" } ] }, { "title": "ELF4 is a critical component of a miRNA-transcription factor network and is a bridge regulator of glioblastoma receptor signaling and lipid dynamics.", "journal": "Neuro-oncology", "date": "2022-07-21", "authors": "Kosti Adam, Chiou Jennifer, Guardia Gabriela D A, Lei Xiufen, Balinda Henriette, Landry Tesha, Lu Xiyuan, Qiao Mei, Gilbert Andrea, Brenner Andrew, Galante Pedro A F, Tiziani Stefano, Penalva Luiz O F", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" } ], "reference": [ { "type": "PubMed", "id": "35862252", "url": "https://glygen.org/publication/PubMed/35862252" } ] }, { "title": "An ELF4 hypomorphic variant results in NK cell deficiency.", "journal": "JCI insight", "date": "2022-12-08", "authors": "Salinas Sandra Andrea, Mace Emily M, Conte Matilde I, Park Chun Shik, Li Yu, Rosario-Sepulveda Joshua I, Mahapatra Sanjana, Moore Emily K, Hernandez Evelyn R, Chinn Ivan K, Reed Abigail E, Lee Barclay J, Frumovitz Alexander, Gibbs Richard A, Posey Jennifer E, Forbes Satter Lisa R, Thatayatikom Akaluck, Allenspach Eric J, Wensel Theodore G, Lupski James R, Lacorazza H Daniel, Orange Jordan S", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" } ], "reference": [ { "type": "PubMed", "id": "36477361", "url": "https://glygen.org/publication/PubMed/36477361" } ] }, { "title": "A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.", "journal": "Journal of clinical immunology", "date": "2023-02-23", "authors": "Sun Gan, Wu Maolan, Lv Qianying, Yang Xi, Wu Junfeng, Tang Wenjing, Dai Rongxin, Zhou Lina, Ding Yuan, Zhang Zhiyong, An Yunfei, Tang Xuemei, Zheng Xiangrong, Wang Zhaoxia, Sun Li, Xie Yongmei, Zhao Xiaodong, Du Hongqiang", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" } ], "reference": [ { "type": "PubMed", "id": "36823308", "url": "https://glygen.org/publication/PubMed/36823308" } ] }, { "title": "FGF19-mediated ELF4 overexpression promotes colorectal cancer metastasis through transactivating FGFR4 and SRC.", "journal": "Theranostics", "date": "2023", "authors": "Chen Xilang, Chen Jie, Feng Weibo, Huang Wenjie, Wang Guodong, Sun Mengyu, Luo Xiangyuan, Wang Yijun, Nie Yongzhan, Fan Daiming, Wu Kaichun, Xia Limin", "evidence": [ { "database": "RefSeq", "id": "NP_001120669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120669" } ], "reference": [ { "type": "PubMed", "id": "36923538", "url": "https://glygen.org/publication/PubMed/36923538" } ] }, { "title": "MEF, a novel transcription factor with an Elf-1 like DNA binding domain but distinct transcriptional activating properties.", "journal": "Oncogene", "date": "1996", "authors": "Sun X., Zhang J., Uchida H., Miyazaki Y., Nimer S.", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" } ], "reference": [ { "type": "PubMed", "id": "8895518", "url": "https://glygen.org/publication/PubMed/8895518" } ] }, { "title": "Cloning of a novel human ELF-1-related ETS transcription factor, ELFR, its characterization and chromosomal assignment relative to ELF-1.", "journal": "Gene", "date": "1998", "authors": "Aryee DN, Petermann R, Kos K, Henn T, Haas OA, Kovar H", "evidence": [ { "database": "UniProtKB", "id": "Q99607", "url": "https://www.uniprot.org/uniprot/Q99607" } ], "reference": [ { "type": "PubMed", "id": "9524226", "url": "https://glygen.org/publication/PubMed/9524226" } ] } ], "pathway": [ { "id": "hsa:2000", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2000", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZWM8-1", "protein_name": "E74-like factor 4 (ets domain transcription factor)", "gene_name": "Elf4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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