{ "uniprot_canonical_ac": "O15047-1", "uniprot_ac": "O15047", "uniprot_id": "SET1A_HUMAN", "mass": { "chemical_mass": 186034.0, "monoisotopic_mass": 186034.0 }, "refseq": { "ac": "NP_055527", "name": "histone-lysine N-methyltransferase SETD1A", "summary": "The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" }, "gene_names": [ { "name": "SETD1A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15047", "id": "O15047" }, { "name": "EPEDD; EPEO2; KMT2F; NEDSID; Set1; Set1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527", "id": "NP_055527" }, { "name": "KIAA0339", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15047", "id": "O15047" }, { "name": "KMT2F", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15047", "id": "O15047" }, { "name": "SET1A", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15047", "id": "O15047" }, { "name": "SET1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15047", "id": "O15047" }, { "name": "SETD1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527", "id": "NP_055527" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase SETD1A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15047" }, { "name": "2.1.1.364", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15047" }, { "name": "Lysine N-methyltransferase 2F", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15047" }, { "name": "SET domain-containing protein 1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15047" }, { "name": "Set1/Ash2 histone methyltransferase complex subunit SET1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15047" }, { "name": "hSET1A; lysine N-methyltransferase 2F; SET domain-containing protein 1A; set1/Ash2 histone methyltransferase complex subunit SET1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527", "id": "NP_055527" }, { "name": "hSET1A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15047" }, { "name": "histone-lysine N-methyltransferase SETD1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527", "id": "NP_055527" } ], "function": [ { "annotation": "Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" }, { "database": "PubMed", "id": "37166351", "url": "https://glygen.org/publication/PubMed/37166351" } ] }, { "annotation": "HCF-1 was required for recruitment of the histone methyltransferases Set1 and MLL1, leading to histone H3K4 trimethylation and transcriptional activation.", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" }, { "database": "PubMed", "id": "17578910", "url": "https://glygen.org/publication/PubMed/17578910" } ] }, { "annotation": "Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:25561738, PubMed:12670868). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:29937342, PubMed:31197650, PubMed:32346159). Responsible for H3K4me3 enriched promoters and transcriptional programming of inner mass stem cells and neuron progenitors during embryogenesis (By similarity) (PubMed:31197650). Required for H3K4me1 mark at stalled replication forks. Mediates FANCD2-dependent nucleosome remodeling and RAD51 nucleofilaments stabilization at reversed forks, protecting them from nucleolytic degradation (PubMed:29937342, PubMed:32346159). Does not methylate 'Lys-4' of histone H3 if the neighboring 'Lys-9' residue is already methylated (PubMed:12670868).", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047#function" }, { "database": "PubMed", "id": "12670868", "url": "https://glygen.org/publication/PubMed/12670868" }, { "database": "PubMed", "id": "25561738", "url": "https://glygen.org/publication/PubMed/25561738" }, { "database": "UniProtKB", "id": "E9PYH6", "url": "https://www.uniprot.org/uniprot/E9PYH6#function" }, { "database": "PubMed", "id": "29937342", "url": "https://glygen.org/publication/PubMed/29937342" }, { "database": "PubMed", "id": "31197650", "url": "https://glygen.org/publication/PubMed/31197650" }, { "database": "PubMed", "id": "32346159", "url": "https://glygen.org/publication/PubMed/32346159" } ] }, { "annotation": "In Vivo and In Vitro Characterization of the RNA Binding Capacity of SETD1A (KMT2F). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" }, { "database": "PubMed", "id": "38003223", "url": "https://glygen.org/publication/PubMed/38003223" } ] }, { "annotation": "SETD1A drives stemness by reprogramming the epigenetic landscape in hepatocellular carcinoma stem cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" }, { "database": "PubMed", "id": "37581938", "url": "https://glygen.org/publication/PubMed/37581938" } ] }, { "annotation": "SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3.", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" }, { "database": "PubMed", "id": "37535603", "url": "https://glygen.org/publication/PubMed/37535603" } ] }, { "annotation": "SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" }, { "database": "PubMed", "id": "37918557", "url": "https://glygen.org/publication/PubMed/37918557" } ] }, { "annotation": "The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" } ] } ], "disease": [ { "disease_id": "DOID:0070417", "recommended_name": { "id": "DOID:0070417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070417", "name": "neurodevelopmental disorder with speech impairment and dysmorphic facies", "description": "A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11." }, "synonyms": [ { "id": "DOID:0070417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070417", "name": "NEDSID", "description": "" }, { "id": "MONDO:0033630", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033630", "name": "neurodevelopmental disorder with speech impairment and dysmorphic facies", "description": "" }, { "id": "MONDO:0033630", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033630", "name": "NEDSID", "description": "" }, { "id": "MIM:619056", "resource": "MIM", "url": "https://www.omim.org/entry/619056", "name": "Neurodevelopmental disorder with speech impairment and dysmorphic facies", "description": "Neurodevelopmental disorder with speech impairment and dysmorphic facies" } ], "evidence": [ { "id": "619056", "database": "MIM", "url": "https://www.omim.org/entry/619056" } ] }, { "disease_id": "DOID:0070471", "recommended_name": { "id": "DOID:0070471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070471", "name": "early-onset epilepsy 2", "description": "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2." }, "synonyms": [ { "id": "DOID:0070471", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070471", "name": "EPEO2", "description": "" }, { "id": "MONDO:0030005", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030005", "name": "epilepsy, early-onset, with or without developmental delay", "description": "" }, { "id": "MONDO:0030005", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030005", "name": "EPEDD", "description": "" }, { "id": "MONDO:0030005", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030005", "name": "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY", "description": "" }, { "id": "MONDO:0030005", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030005", "name": "epilepsy, early-onset, with or without developmental delay", "description": "" }, { "id": "MIM:618832", "resource": "MIM", "url": "https://www.omim.org/entry/618832", "name": "Epilepsy, early-onset, with or without developmental delay", "description": "Epilepsy, early-onset, with or without developmental delay" } ], "evidence": [ { "id": "618832", "database": "MIM", "url": "https://www.omim.org/entry/618832" } ] } ], "snv": [ { "evidence": [ { "id": "rs138168130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138168130" }, { "id": "rs138168130", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138168130" }, { "id": "rs138168130", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138168130" }, { "id": "rs138168130", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138168130#frequency_tab" }, { "id": "rs138168130", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138168130" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1012, "end_pos": 1012, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "16", "chr_pos": "30971395", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.001198", "site_lbl": "D1012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs542834194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542834194" }, { "id": "rs542834194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs542834194" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1036, "end_pos": 1036, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "16", "chr_pos": "30971468", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1036", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439711055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439711055" }, { "id": "rs1439711055", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439711055" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1037, "end_pos": 1037, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "16", "chr_pos": "30971471", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1037", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1400088091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400088091" }, { "id": "rs1400088091", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1400088091" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1040, "end_pos": 1040, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "16", "chr_pos": "30971480", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1040", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs534596773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534596773" }, { "id": "rs534596773", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534596773" }, { "id": "rs534596773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534596773" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1381, "end_pos": 1381, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "16", "chr_pos": "30979928", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "S1381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O15047", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15047" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1467, "end_pos": 1467, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HHT->NHT).", "chr_id": "16", "chr_pos": "30980185", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H1467", "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" ] }, { "evidence": [ { "id": "O15047", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15047" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 156, "end_pos": 156, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HLT->NLT).", "chr_id": "16", "chr_pos": "30961486", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H156", "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" ] }, { "evidence": [ { "id": "O15047", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15047" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1634, "end_pos": 1634, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "16", "chr_pos": "30983722", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1634", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O15047", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15047" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15047", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15047" } ], "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": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15047", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15047" } ], "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": 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Pathway" ] }, { "id": "60268", "url": "https://www.rhea-db.org/rhea/60268", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "60272", "url": "https://www.rhea-db.org/rhea/60272", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A804HLA6", "url": "https://www.uniprot.org/uniprot/A0A804HLA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HLA6-1", "url": "https://www.uniprot.org/uniprot/A0A804HLA6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J2Z9", "url": "https://www.uniprot.org/uniprot/C9J2Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J2Z9-1", "url": "https://www.uniprot.org/uniprot/C9J2Z9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15047-1", "url": "https://www.uniprot.org/uniprot/O15047-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFARLNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKALSEKFQGSGAATETAESRRRSSSDTAAYPAGTTAVGTPGNGTPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRRSENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFRSSDANYPAYYESWNRYQRHTSYPPRRATREEPPGAPFAENTAERFPPSYTSYLPPEPSRPTDQDYRPPASEAPPPEPPEPGGGGGGGGPSPEREEVRTSPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSMVLGARDTGSEVPSGSGHGPCTPPPAPANFEDVAPTGSGEPGATRESPKANGQNQASPCSSGDDMEISDDDRGGSPPPAPTPPQQPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPHIYDFVNSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLIAASAGPPGGAFGEAFLPFPPPQEAAYGLPYALYAQGQEGRGAYSREAYHLPMPMAAEPLPSSSVSGEEARLPPREEAELAEGKTLPTAGTVGRVLAMLVQEMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNAAKQQAKEEDKEKTKLKEPGLLSLVDWAKSGGTTGIEAFAFGSGLRGALRLPSFKVKRKEPSEISEASEEKRPRPSTPAEEDEDDPEQEKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFALDSEGEEASQESSSEKDEEDDEEDEEDEDREEAVDTTKKETEVSDGEDEESDSSSKCSLYADSDGENDSTSDSESSSSSSSSSSSSSSSSSSSSSSSSESSSEDEEEEERPAALPSASPPPREVPVPTPAPVEVPVPERVAGSPVTPLPEQEASPARPAGPTEESPPSAPLRPPEPPAGPPAPAPRPDERPSSPIPLLPPPKKRRKTVSFSAIEVVPAPEPPPATPPQAKFPGPASRKAPRGVERTIRNLPLDHASLVKSWPEEVSRGGRSRAGGRGRLTEEEEAEPGTEVDLAVLADLALTPARRGLPALPAVEDSEATETSDEAERPRPLLSHILLEHNYALAVKPTPPAPALRPPEPVPAPAALFSSPADEVLEAPEVVVAEAEEPKPQQLQQQREEGEEEGEEEGEEEEEESSDSSSSSDGEGALRRRSLRSHARRRRPPPPPPPPPPRAYEPRSEFEQMTILYDIWNSGLDSEDMSYLRLTYERLLQQTSGADWLNDTHWVHHTITNLTTPKRKRRPQDGPREHQTGSARSEGYYPISKKEKDKYLDVCPVSARQLEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKLNQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQNIRQMVADMREKRYVQEGIGSSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEITYDYKFPLEDNKIPCLCGTESCRGSLN", "length": 1707, "header": "sp|O15047-1|SET1A_HUMAN Isoform 1 of Histone-lysine N-methyltransferase SETD1A OS=Homo sapiens OX=9606 GN=SETD1A PE=1 SV=3 CANONICAL=O15047-1" }, "isoforms": [ { "isoform_ac": "A0A804HLA6-1", "url": "", "sequence": { "sequence": "MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFARLNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKALSEKFQGSGAATETAESRRRSSSDTAAYPAGTTAVGTPGNGTPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSS", "length": 289, "header": "tr|A0A804HLA6-1|SET1A_HUMAN Computationally mapped isoform of Histone-lysine N-methyltransferase SETD1A OS=Homo sapiens OX=9606 GN=SETD1A PE=1 SV=1 CANONICAL=O15047-1" }, "locus": { "chromosome": "16", "start_pos": 30964321, "end_pos": 30958732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682768.1", "url": "https://www.ensembl.org/id/ENST00000682768.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508271.1", "url": "https://www.ensembl.org/id/ENSP00000508271.1" } ] } }, { "isoform_ac": "C9J2Z9-1", "url": "", "sequence": { "sequence": "MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSK", "length": 70, "header": "tr|C9J2Z9-1|C9J2Z9_HUMAN Computationally mapped isoform of SET domain containing 1A, histone lysine methyltransferase OS=Homo sapiens OX=9606 GN=SETD1A PE=1 SV=3 CANONICAL=O15047-1" }, "locus": { "chromosome": "16", "start_pos": 30959150, "end_pos": 30958732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452917.3", "url": "https://www.ensembl.org/id/ENST00000452917.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000391408.3", "url": "https://www.ensembl.org/id/ENSP00000391408.3" } ] } }, { "isoform_ac": "O15047-1", "url": "", "sequence": { "sequence": "MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFARLNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKALSEKFQGSGAATETAESRRRSSSDTAAYPAGTTAVGTPGNGTPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRRSENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFRSSDANYPAYYESWNRYQRHTSYPPRRATREEPPGAPFAENTAERFPPSYTSYLPPEPSRPTDQDYRPPASEAPPPEPPEPGGGGGGGGPSPEREEVRTSPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSMVLGARDTGSEVPSGSGHGPCTPPPAPANFEDVAPTGSGEPGATRESPKANGQNQASPCSSGDDMEISDDDRGGSPPPAPTPPQQPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPHIYDFVNSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLIAASAGPPGGAFGEAFLPFPPPQEAAYGLPYALYAQGQEGRGAYSREAYHLPMPMAAEPLPSSSVSGEEARLPPREEAELAEGKTLPTAGTVGRVLAMLVQEMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNAAKQQAKEEDKEKTKLKEPGLLSLVDWAKSGGTTGIEAFAFGSGLRGALRLPSFKVKRKEPSEISEASEEKRPRPSTPAEEDEDDPEQEKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFALDSEGEEASQESSSEKDEEDDEEDEEDEDREEAVDTTKKETEVSDGEDEESDSSSKCSLYADSDGENDSTSDSESSSSSSSSSSSSSSSSSSSSSSSSESSSEDEEEEERPAALPSASPPPREVPVPTPAPVEVPVPERVAGSPVTPLPEQEASPARPAGPTEESPPSAPLRPPEPPAGPPAPAPRPDERPSSPIPLLPPPKKRRKTVSFSAIEVVPAPEPPPATPPQAKFPGPASRKAPRGVERTIRNLPLDHASLVKSWPEEVSRGGRSRAGGRGRLTEEEEAEPGTEVDLAVLADLALTPARRGLPALPAVEDSEATETSDEAERPRPLLSHILLEHNYALAVKPTPPAPALRPPEPVPAPAALFSSPADEVLEAPEVVVAEAEEPKPQQLQQQREEGEEEGEEEGEEEEEESSDSSSSSDGEGALRRRSLRSHARRRRPPPPPPPPPPRAYEPRSEFEQMTILYDIWNSGLDSEDMSYLRLTYERLLQQTSGADWLNDTHWVHHTITNLTTPKRKRRPQDGPREHQTGSARSEGYYPISKKEKDKYLDVCPVSARQLEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKLNQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQNIRQMVADMREKRYVQEGIGSSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEITYDYKFPLEDNKIPCLCGTESCRGSLN", "length": 1707, "header": "sp|O15047-1|SET1A_HUMAN Isoform 1 of Histone-lysine N-methyltransferase SETD1A OS=Homo sapiens OX=9606 GN=SETD1A PE=1 SV=3 CANONICAL=O15047-1" }, "locus": { "chromosome": "16", "start_pos": 30984020, "end_pos": 30958732, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262519.14", "url": "https://www.ensembl.org/id/ENST00000262519.14" }, { "database": "Ensembl Peptide", "id": "ENSP00000262519.8", "url": "https://www.ensembl.org/id/ENSP00000262519.8" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 256, "start_aa": "Thr", "end_pos": 256, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr256", "evidence": [ { "id": "O15047", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15047" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 271, "start_aa": "Thr", "end_pos": 271, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr271", "evidence": [ { "id": "O15047", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15047" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 274, "start_aa": "Thr", "end_pos": 274, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr274", "evidence": [ { "id": "O15047", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15047" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 275, "start_aa": "Ser", "end_pos": 275, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser275", "evidence": [ { "id": "O15047", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15047" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "32574038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32574038" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "21740066", "database": "PubMed", "url": 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Chem.", "date": "2005", "authors": "Lee Jeong-Heon, Skalnik David G", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "reference": [ { "type": "PubMed", "id": "16253997", "url": "https://glygen.org/publication/PubMed/16253997" } ] }, { "title": "A histone H3 methyltransferase controls epigenetic events required for meiotic prophase.", "journal": "Nature", "date": "2005", "authors": "Hayashi K, Yoshida K, Matsui Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214841", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841" } ], "reference": [ { "type": "PubMed", "id": "16292313", "url": "https://glygen.org/publication/PubMed/16292313" } ] }, { "title": "Catalytic properties and kinetic mechanism of human recombinant Lys-9 histone H3 methyltransferase SUV39H1: participation of the chromodomain in enzymatic catalysis.", "journal": "Biochemistry", "date": "2006", "authors": "Chin HG, Patnaik D, Esteve PO, 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Commun.", "date": "2023", "authors": "Bao Sijia, Xu Chao", "evidence": [ { "database": "UniProtKB", "id": "A0A804HLA6", "url": "https://www.uniprot.org/uniprot/A0A804HLA6" } ], "reference": [ { "type": "PubMed", "id": "37030068", "url": "https://glygen.org/publication/PubMed/37030068" } ] }, { "title": "Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.", "journal": "Human molecular genetics", "date": "2023-11-03", "authors": "Lee Sunwoo, Menzies Lara, Hay Eleanor, Ochoa Eguzkine, Docquier France, Rodger Fay, Deshpande Charu, Foulds Nicola C, Jacquemont S\u00e9bastien, Jizi Khadije, Kiep Henriette, Kraus Alison, L\u00f6hner Katharina, Morrison Patrick J, Popp Bernt, Richardson Ruth, van Haeringen Arie, Martin Ezequiel, Toribio Ana, Li Fudong, Jones Wendy D, Sansbury Francis H, Maher Eamonn R", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" } ], "reference": [ { "type": "PubMed", "id": "37166351", "url": "https://glygen.org/publication/PubMed/37166351" } ] }, { "title": "SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3.", "journal": "EMBO reports", "date": "2023-10-09", "authors": "Perlee Sarah, Kikuchi Sota, Nakadai Tomoyoshi, Masuda Takeshi, Ohtsuki Sumio, Matsumoto Makoto, Rahmutulla Bahityar, Fukuyo Masaki, Cifani Paolo, Kentsis Alex, Roeder Robert G, Kaneda Atsushi, Hoshii Takayuki", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" } ], "reference": [ { "type": "PubMed", "id": "37535603", "url": "https://glygen.org/publication/PubMed/37535603" } ] }, { "title": "SETD1A drives stemness by reprogramming the epigenetic landscape in hepatocellular carcinoma stem cells.", "journal": "JCI insight", "date": "2023-09-22", "authors": "Chen Jianxu, Xu Zhijie, Huang Hongbin, Tang Yao, Shan Hong, Xiao Fei", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" } ], "reference": [ { "type": "PubMed", "id": "37581938", "url": "https://glygen.org/publication/PubMed/37581938" } ] }, { "title": "SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.", "journal": "Progress in neuro-psychopharmacology & biological psychiatry", "date": "2024-02-08", "authors": "Colijn Mark A, Carrion Prescilla, Poirier-Morency Guillaume, Rogic Sanja, Torres Ivan, Menon Mahesh, Lisonek Michelle, Cook Courtney, DeGraaf Ashley, Thammaiah Subramanya Ponnachana, Neelakant Harish, Willaeys Veerle, Leonova Olga, White Randall F, Yip Stephen, Mungall Andrew J, MacLeod Patrick M, Gibson William T, Sullivan Patrick F, Honer William G, Pavlidis Paul, Stowe Robert M", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" } ], "reference": [ { "type": "PubMed", "id": "37918557", "url": "https://glygen.org/publication/PubMed/37918557" } ] }, { "title": "In Vivo and In Vitro Characterization of the RNA Binding Capacity of SETD1A (KMT2F).", "journal": "International journal of molecular sciences", "date": "2023-11-07", "authors": "Amin Harem Muhamad, Szabo Beata, Abukhairan Rawan, Zeke Andras, Kardos J\u00f3zsef, Schad Eva, Tantos Agnes", "evidence": [ { "database": "RefSeq", "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527" } ], "reference": [ { "type": "PubMed", "id": "38003223", "url": "https://glygen.org/publication/PubMed/38003223" } ] } ], "pathway": [ { "id": "hsa:9739", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9739", "resource": "KEGG Pathway" }, { "id": "R-HSA-3214841", "name": "PKMTs methylate histone lysines", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214841", "resource": "Reactome", "description": "PKMTs methylate histone lysines" }, { "id": "R-HSA-8936459", "name": "RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936459", "resource": "Reactome", "description": "RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function" }, { "id": "R-HSA-9772755", "name": "Formation of WDR5-containing histone-modifying complexes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9772755", "resource": "Reactome", "description": "Formation of WDR5-containing histone-modifying complexes" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K6T6-1", "protein_name": "SET domain containing 1A, histone lysine methyltransferase", "gene_name": "Setd1a", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVSDSKYTPVEDLQDPRCHVRSKTRDFSLPVPKFKLDEFYIGQVPLKEVTFARLNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKALSEKFQGSSGATTETTEARRRSSSDTAAYSAGTTVGGTPGNGTPCSQDTNFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRRSENSYQDSFSRRHFSASSAPATTATATSATAAATVASSSSSSSSSSSSSSSSSSSSASQFRGSDSSYPAYYESWNRYQRHTSYPPRRATREDPSGAPFAENTAERFPPSYTSYLAPEPNRSTDQDYRPPASEAPPPEPPEPGGGSGGGGGGGSGGGGGAPSPEREEARTSPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSAGPGARDAGGEVPSGAGHGPCTPPPAPANFEDVAPTGSGEPGAARESPKANGQNQASPCSSGEDMEISDDDRGGSPPPAPTPPQQPPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPHPDGPPPPEYPPPPPPPPHIYDFVNSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLTAASAGPPGGAFGEAFLPFPPPQEAAYGLPYALYTQGQEGRGAYSREAYHLPLPMAAEPLPSSSVSGEEARLPHREEAEIAESKALPSAGTVGRVLATLVQEMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNAAKQQAKEEDKEKMKLKEPGMLSLVDWAKSGGITGIEAFAFGSGLRGALRLPSFKVKRKEPSEISEASEEKRPRPSTPAEEDEDDPEREKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFALDSEGEEASQESSSEKDEDDDEEDEEDEEREEAVDATKKEAEASDGEDEDGDSSSQCSLYADSDGEDGSTSDSESGSSSSSPSSSSSSSSSSSSESSSEEEEQSAVIPSASPPPREVPEPLPAPDEKPETDRVVDSPVMPLPEKETTSTQPAGPAEEPPPNIPQPPPEPPAGPPDPPPRLDERPSSPIPLLPPPKKRRKTVSFSATEEAPVPEPSTASPLQAKSPGPVSRKVPRVVERTIRNLPLDHASLVKSWPEEVARGGRNRAGGRVRSTEEEEATESGTEVDLAVLADLALTPARRGLAAIPTGDDSEATETSDEAERPSPLLSHILLEHNYALAIKPPPTTPAPRPLEPAPALAALFSSPADEVLEAPEVVVAEAEEPKQPLQQQQHPEQEGEDEEEDEEEESESSESSSSSSSSDEEGAIRRRSLRSHTRRRRPPLPPPPPPPPSFEPRSEFEQMTILYDIWNSGLDLEDMSYLRLTYERLLQQTSGADWLNDTHWVHHTITNLSTPKRKRRPQDGPREHQTGSARSEGYYPISKKEKDKYLDVCPVSARQPEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKLNQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQNIRQMVADMREKRYVQEGIGSSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEITYDYKFPLEDNKIPCLCGTESCRGSLN", "length": 1717 }, "evidence": [ { "id": "O15047", "url": "https://omabrowser.org/oma/group/O15047/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "E9PYH6-1", "protein_name": "Histone-lysine N-methyltransferase SETD1A", "gene_name": "Setd1a", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVSDSKYTPVEDLQDPRCHVRSKARDFSLPVPKFKLDEFYIGQIPLKEVTFARLNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKALSEKFQGSGAAAETTEARRRSSSDTAAYPAGTTVGGTPGNGTPCSQDTNFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRRSENSYQDSFSRRHFSTSSAPATTATATSATAAATAASSSSSSSSSSSSSSSSSSSASQFRGSDSSYPAYYESWNRYQRHTSYPPRRATREDPSGASFAENTAERFPPSYTSYLAPEPNRSTDQDYRPPASEAPPPEPPEPGGGGGGSGGGGGGGGGGGGGAPSPEREEARTPPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSAGPGARDAGAEVPSGAGHGPCTPPPAPANFEDVAPTGSGEPGAARESPKANGQNQASPCSSGEDMEISDDDRGGSPPPAPTPPQQPPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPPHIYDFVNSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLTAASAGPPGGAFGEAFLPFPPPQEAAYGLPYALYTQGQEGRGSYSREAYHLPLPMAAEPLPSSSVSGEEARLPHREEAEIAESKVLPSAGTVGRVLATLVQEMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNAAKQQAKEEDKEKMKLKEPGMLSLVDWAKSGGITGIEAFAFGSGLRGALRLPSFKVKRKEPSEISEASEEKRPRPSTPAEEDEDDPEREKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFTLDSEGEEASQESSSEKDEDDDDEDEEDEEQEEAVDATKKEAEASDGEDEDSDSSSQCSLYADSDGENGSTSDSESGSSSSSSSSSSSSSSSSSSESSSEEEEQSAVIPSASPPREVPEPLPAPDEKPETDGLVDSPVMPLSEKETLPTQPAGPAEEPPPSVPQPPAEPPAGPPDAAPRLDERPSSPIPLLPPPKKRRKTVSFSAAEEAPVPEPSTAAPLQAKSSGPVSRKVPRVVERTIRNLPLDHASLVKSWPEEVARGGRNRAGGRVRSTEEEEATESGTEVDLAVLADLALTPARRGLATLPTGDDSEATETSDEAERPSPLLSHILLEHNYALAIKPPPTTPAPRPLEPAPALAALFSSPADEVLEAPEVVVAEAEEPKQQLQQQHPEQEGEEEEEDEEEESESSESSSSSSSDEEGAIRRRSLRSHTRRRRPPLPPPPPPPPSFEPRSEFEQMTILYDIWNSGLDLEDMSYLRLTYERLLQQTSGADWLNDTHWVQHTITNLSTPKRKRRPQDGPREHQTGSARSEGYYPISKKEKDKYLDVCPVSARQLEGGDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKLNQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQNIRQMVADMREKRYVQEGIGSSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEITYDYKFPLEDNKIPCLCGTESCRGSLN", "length": 1716 }, "evidence": [ { "id": "45922085", "url": "http://www.informatics.jax.org/homology/45922085", "database": "MGI" }, { "id": "O15047", "url": "https://omabrowser.org/oma/group/O15047/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "histone H3K4 methyltransferase activity", "id": "GO:0042800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042800", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "histone H3K4 monomethyltransferase activity", "id": "GO:0140945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140945", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "histone H3K4 trimethyltransferase activity", "id": "GO:0140999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140999", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "Set1C/COMPASS complex", "id": "GO:0048188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048188", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "regulation of hematopoietic stem cell differentiation", "id": "GO:1902036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902036", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" }, { "name": "regulation of chromatin organization", "id": "GO:1902275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902275", "evidence": [ { "database": "UniProtKB", "id": "O15047", "url": "https://www.uniprot.org/uniprot/O15047" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1027, "end_pos": 1029, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1461, "end_pos": 1463, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1472, "end_pos": 1474, "annotation": "n_glycosylation_sequon" }, { "start_pos": 185, "end_pos": 187, "annotation": "n_glycosylation_sequon" }, { "start_pos": 239, "end_pos": 241, "annotation": "n_glycosylation_sequon" }, { "start_pos": 477, "end_pos": 479, "annotation": "n_glycosylation_sequon" }, { "start_pos": 50, "end_pos": 52, "annotation": "n_glycosylation_sequon" }, { "start_pos": 516, "end_pos": 518, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "60264", "name": "", "equation": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D4ADE5-1", "A0A0G2JVD6-1", "A0A0G2K1E3-1", "F1M0L3-1", "A0A8I6A4Z1-1", "Q9NVD3-1", "Q8WTS6-1", "Q9UPS6-1", "Q8NEZ4-1", "Q9UMN6-1", "O14686-1", "Q03164-1", "O15047-1", "Q8BRH4-1", "Q6PDK2-1", "O08550-1", "P58467-1", "P55200-1", "Q8CFT2-1", "Q8VHL1-1", "E9PYH6-1", "Q54J80-1" ], "evidence": [ { "id": "60264", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60264" } ] }, { "id": "60268", "name": "", "equation": "N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "F1M0L3-1", "Q9NVD3-1", "Q9UPS6-1", "Q9UMN6-1", "Q03164-1", "O15047-1", "P58467-1", "P55200-1", "Q8CFT2-1", "O08550-1", "E9PYH6-1", "P38827-1" ], "evidence": [ { "id": "60268", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60268" } ] }, { "id": "60272", "name": "", "equation": "N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UPS6-1", "O15047-1", "Q9NQW5-3", "Q8CFT2-1", "E9PYH6-1", "P38827-1" ], "evidence": [ { "id": "60272", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/60272" } ] }, { "id": "R-HSA-5159245", "name": "SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4)", "equation": "", "summary": "Tri-methylation of lysine-5 of histone H3 (H3K4) has been linked to transcriptional activation in a variety of eukaryotic species (Ruthenberg et al. 2007). Several H3K4 methyltransferases have been identified in mammals, predominantly members of the Mixed Lineage Leukemia (MLL) protein family. Five of these, KMT2A (MML1), KMT2D (MLL2), KMT2C (MLL3), KMT2B (MLL4) and SETD1A (KMT2F) have been shown to display H3K4 mono-, di- and tri-methyltransferase activity (Milne et al. 2002, Hughes et al. 2004, Cho et al. 2007, Wysocka et al. 2003). KMT2G (SETD1B) is believed to have similar activity on the basis of sequence homology (Ruthenberg et al. 2007). MLLs are a component of large multiprotein complexes that also include WDR5, RBBP5, ASH2 and DPY30, assembled to form the core MLL complex (Nakamura et al. 2002, Hughes et al. 2004, Dou et al. 2006, Tremblay et al. 2014). The WD40 domain of WDR5 recognizes and binds the histone H3 N-terminus, presenting the lysine-4 side chain for methylation by one of the catalytically active MLL family (Couture et al. 2006, Ruthenburg et al. 2006). Histone H3 recognition by WDR5 is regulated by the methylation state of adjacent arginine (H3R2) residue. H3R2 methylation abolishes WDR5 interaction with the H3 histone tail (Couture et al. 2006); H3K4 di-/trimethylation and H3R2 methylation have an inverse relationship (Guccione et al. 2006).

SETD7 (KMT7, SET9, SET7/9) is an H3K4 mono-methytransferase (Wang et al. 2001, Xiao et al. 2003, Hu & Zhang 2006) that can also methylate a wide range of non-histone proteins (Dhayalan et al. 2011). SETD3 can mono- and di-methylate H3K4 and H3K36 (Eom et al. 2011).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8WTS6-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q86TU7-1", "Q9BZ95-1" ], "evidence": [ { "id": "R-HSA-5159245", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5159245" } ] }, { "id": "R-HSA-5244692", "name": "Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4)", "equation": "", "summary": "Trimethylation of lysine-5 of histone H3 (H3K4) has been linked to transcriptional activation in a variety of eukaryotic species (Ruthenberg et al. 2007). Several H3K4 methyltransferases have been identified in mammals, predominantly members of the Mixed Lineage Leukemia (MLL) protein family. Five of these, KMT2A (MML1), KMT2D (MLL2), KMT2C (MLL3), KMT2B (MLL4) and SETD1A (KMT2F) have been shown to display H3K4 mono-, di- and tri-methyltransferase activity (Milne et al. 2002, Hughes et al. 2004, Cho et al. 2007, Wysocka et al. 2003). KMT2G (SETD1B) is believed to have similar activity on the basis of sequence homology (Ruthenberg et al. 2007). MLLs are a component of large multiprotein complexes that also include WDR5, RBBP5, ASH2 and DPY30, assembled to form the core MLL complex (Nakamura et al. 2002, Hughes et al. 2004, Dou et al. 2006, Tremblay et al. 2014). The WD40 domain of WDR5 recognizes and binds the histone H3 N-terminus, presenting the lysine-4 side chain for methylation by one of the catalytically active MLL family (Couture et al. 2006, Ruthenburg et al. 2006). Histone H3 recognition by WDR5 is regulated by the methylation state of the adjacent arginine (H3R2) residue. H3R2 methylation abolishes WDR5 interaction with the H3 histone tail (Couture et al. 2006); H3K4 di-/trimethylation and H3R2 methylation have an inverse relationship (Guccione et al. 2006).

SMYD3 (KMT3E) and PRDM9 (KMT8B) are able to tri-methylate H3K4 (Hamamoto et al. 2004, Hayashi et al. 2005, Koh-Stenta et al. 2014).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9NQV7-1", "Q9UPS6-1", "Q9H7B4-1" ], "evidence": [ { "id": "R-HSA-5244692", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5244692" } ] }, { "id": "R-HSA-5637686", "name": "WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4)", "equation": "", "summary": "Trimethylation of lysine-5 of histone H3 (H3K4) has been linked to transcriptional activation in a variety of eukaryotic species (Ruthenberg et al. 2007). Several H3K4 methyltransferases have been identified in mammals, predominantly members of the Mixed Lineage Leukemia (MLL) protein family. Five of these, KMT2A (MML1), KMT2D (MLL2), KMT2C (MLL3), KMT2B (MLL4) and SETD1A (KMT2F) have been shown to display H3K4 mono-, di- and tri-methyltransferase activity (Milne et al. 2002, Hughes et al. 2004, Cho et al. 2007, Wysocka et al. 2003). KMT2G (SETD1B) is believed to have similar activity on the basis of sequence homology (Ruthenberg et al. 2007). MLLs are a component of large multiprotein complexes that also include WDR5, RBBP5, ASH2 and DPY30, assembled to form the core MLL complex (Nakamura et al. 2002, Hughes et al. 2004, Dou et al. 2006, Tremblay et al. 2014). The WD40 domain of WDR5 recognizes and binds the histone H3 N-terminus, presenting the lysine-4 side chain for methylation by one of the catalytically active MLL family (Couture et al. 2006, Ruthenburg et al. 2006). Histone H3 recognition by WDR5 is regulated by the methylation state of the adjacent arginine (H3R2) residue. H3R2 methylation abolishes WDR5 interaction with the H3 histone tail (Couture et al. 2006); H3K4 di-/trimethylation and H3R2 methylation have an inverse relationship (Guccione et al. 2006). ; ; WHSC1L1 (KMT3F, WHISTLE), SMYD3 (KMT3E) and SETD3 are able to di-methylate H3K4 (Kim et al. 2006, Hamamoto et al. 2004, Eom et al. 2011).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q9H7B4-1", "Q86TU7-1", "Q9BZ95-1" ], "evidence": [ { "id": "R-HSA-5637686", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5637686" } ] }, { "id": "R-HSA-8935731", "name": "ITGA2B gene transcription is stimulated by the complex of RUNX1, GATA1 and PRMT1 and inhibited by the complex of RUNX1, SIN3A and PRMT6", "equation": "", "summary": "The RUNX1:CBFB complex binds the promoter of the ITGA2B (CD41) gene, encoding Integrin alpha IIb, and stimulates ITGFA2B transcription. Transcription of ITGA2B is significantly upregulated by PRMT1-dependent arginine methylation of RUNX1, which interferes with the recruitment of the SIN3A (or, possibly, SIN3B) co-repressor (Zhao et al. 2008). The transcription activator complex at the ITGA2B promoter includes the RUNX1:CBFB complex, PRMT1, the GATA1:ZFPM1 complex, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), and the WDR5-containing histone methyltransferase MLL complex. The MLL complex produces the activating H3K4me3 mark on nucleosomes associated with the ITGA2B gene promoter (Herglotz et al. 2013).
The transcription repressor complex at the ITGA2B promoter is formed when the SIN3A (or possibly SIN3B) co-repressor binds to the RUNX1:CBFB complex along with histone arginine methyltransferase PRMT6 and histone deacetylase HDAC1. Histone H3 arginine methylation by PRMT6 interferes with methylation of H3K4me2 to generate the activating H3K4me3 mark at the ITGA2B gene promoter, thus contributing to transcriptional repression (Herglotz et al. 2013).
ITGA2B, involved in platelet aggregation, is only expressed in maturing megakaryocytes and platelets and is a model gene for megakaryocyte specific expression (Block and Poncz 1995, Jackson 2007).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [ "R-HSA-8935722" ], "output_participant_list": [ "R-HSA-57578" ], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "Q96LA8-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q13547-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8935731", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8935731" } ] }, { "id": "R-HSA-8935740", "name": "RUNX1 and GATA1 bind the promoter of the ITGA2B gene", "equation": "", "summary": "The RUNX1:CBFB complex can bind to the promoter of the ITGA2B (CD41) gene, encoding Integrin alpha-IIb, both in the absence and in the presence of PRMT1. PRMT1-mediated arginine-methylation significantly increases transcriptional activity of the RUNX1:CBFB complex at the ITGA2B promoter (Zhao et al. 2008). In addition to the RUNX1:CBFB complex, the complex of GATA1 and ZFPM1 (FOG1) (Freson et al. 2003) is also recruited to the ITGA2B promoter (Herglotz et al. 2013), likely through the interaction between GATA1 and RUNX1 (Elagib et al. 2003). The zinc finger domain of GATA1 is involved in binding to RUNX1 (Xu et al. 2006). Along with RUNX1 and GATA1, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), as well as the WDR5-containing histone methyltransferase MLL complexes are also recruited to the ITGA2B promoter (Herglotz et al. 2013). Dimethylation of histone H3 on lysine residue K4 (K5 when taking into account the initiator methionine), known as the H3K4me2 mark, is characteristic of nucleosomes associated with megakaryocyte specific promoters, including the ITGA2B gene, prior to the onset of differentiation (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8935740", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8935740" } ] }, { "id": "R-HSA-8936481", "name": "Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter", "equation": "", "summary": "The WDR5-containing histone methyltransferase MLL complex, recruited to the ITGA2B promoter via RUNX1 (and possibly GATA1), methylates histone H3 on dimethylated lysine residue K4 (K5 when taking into account the initiator methionine), producing the H3K4me3 mark. The H3K4me3 mark is characteristic of nucleosomes associated with transcriptionally active promoters of megakaryocyte-specific genes (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936481", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936481" } ] }, { "id": "R-HSA-8936616", "name": "RUNX1 and GATA1 bind the promoter of the GP1BA gene", "equation": "", "summary": "The RUNX1:CBFB complex can bind to the promoter of the GP1BA (CD42b) gene, encoding Platelet glycoprotein Ib alpha chain. Based on the analogy with the ITGA2B gene transcription (Zhao et al. 2008), the PRMT1-mediated arginine-methylation increases transcriptional activity of the RUNX1:CBFB complex at the GP1BA promoter (Herglotz et al. 2013). In addition to the RUNX1:CBFB complex, the complex of GATA1 and ZFPM1 (FOG1) (Freson et al. 2003) is also recruited to the GP1BA promoter (Herglotz et al. 2013), likely through the interaction between GATA1 and RUNX1 (Elagib et al. 2003). The zinc finger domain of GATA1 is involved in binding to RUNX1 (Xu et al. 2006). Along with RUNX1 and GATA1, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), as well as the WDR5-containing histone methyltransferase MLL complex are also recruited to the GP1BA promoter. Dimethylation of histone H3 on lysine residue K4 (K5 when taking into account the initiator methionine), known as the H3K4me2 mark, is characteristic of nucleosomes associated with megakaryocyte specific promoters, including the GP1BA gene, prior to the onset of differentiation (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936616", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936616" } ] }, { "id": "R-HSA-8936621", "name": "Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter", "equation": "", "summary": "The WDR5-containing histone methyltransferase MLL complex, recruited to the GP1BA promoter via RUNX1 (and possibly GATA1), methylates histone H3 on dimethylated lysine residue K4 (K5 when taking into account the initiator methionine), producing the H3K4me3 mark. The H3K4me3 mark is characteristic of nucleosome associated with transcriptionally active promoters of megakaryocyte-specific genes (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936621", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936621" } ] }, { "id": "R-HSA-8936628", "name": "GP1BA gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6", "equation": "", "summary": "The RUNX1:CBFB complex binds the promoter of the GP1BA (CD42b) gene, encoding Platelet glycoprotein Ib alpha chain, and stimulates GP1BA transcription. Based on analogy with the ITGA2B gene transcription, transcription of GP1BA is significantly upregulated by PRMT1-dependent arginine methylation of RUNX1, which interferes with the recruitment of the SIN3A (or, possibly, SIN3B) co-repressor (Zhao et al. 2008). The transcription activator complex at the GP1BA gene promoter includes the RUNX1:CBFB complex, PRMT1, the GATA1:ZFPM1 complex, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), and the WDR5-containing histone methyltransferase MLL complex. The MLL complex produces the activating H3K4me3 mark on nucleosomes associated with the GP1BA gene promoter (Herglotz et al. 2013).
The transcription repressor complex at the GP1BA promoter is formed when the SIN3A (or possibly SIN3B) co-repressor binds to the RUNX1:CBFB complex along with histone arginine methyltransferase PRMT6 and histone deacetylase HDAC1. Histone H3 arginine methylation by PRMT6 interferes with methylation of H3K4me2 to generate the activating H3K4me3 mark at the GP1BA gene promoter, thus contributing to transcriptional repression (Herglotz et al. 2013).
Platelet glycoprotein Ib (GP-Ib) alpha chain, encoded by the GP1BA gene, is expressed at the cell surface membrane of platelets and participates in the formation of platelet plugs (Cauwenberghs et al. 2000, Jilma-Stohlawetz et al. 2003). Gp-Ib protein is first detected on the plasma membrane of maturing megakaryocytes (Debili et al. 1990).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [ "R-HSA-8936595" ], "output_participant_list": [ "R-HSA-55861" ], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "Q96LA8-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q13547-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936628", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936628" } ] }, { "id": "R-HSA-8936979", "name": "RUNX1 and GATA1 bind the promoter of the THBS1 gene", "equation": "", "summary": "The RUNX1:CBFB complex can bind to the promoter of the THBS1 (TSP-1) gene, encoding Thrombospondin-1. Based on the analogy with the ITGA2B gene transcription (Zhao et al. 2008), the PRMT1-mediated arginine-methylation increases transcriptional activity of the RUNX1:CBFB complex at the THBS1 promoter (Herglotz et al. 2013). In addition to the RUNX1:CBFB complex, the complex of GATA1 and ZFPM1 (FOG1) (Freson et al. 2003) is also recruited to the THBS1 promoter (Herglotz et al. 2013), likely through the interaction between GATA1 and RUNX1 (Elagib et al. 2003). The zinc finger domain of GATA1 is involved in binding to RUNX1 (Xu et al. 2006). Along with RUNX1 and GATA1, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), as well as the WDR5-containing histone methyltransferase MLL complex are also recruited to the THBS1 promoter. Dimethylation of histone H3 on lysine residue K4 (K5 when taking into account the initiator methionine), known as the H3K4me2 mark, is characteristic of nucleosomes associated with megakaryocyte promoters prior to the onset of differentiation (Herglotz et al. 2013) and is assumed to be present at the THBS1 promoter.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936979", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936979" } ] }, { "id": "R-HSA-8936995", "name": "THBS1 gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6", "equation": "", "summary": "The RUNX1:CBFB complex binds the promoter of the THBS1 (TSP-1) gene, encoding Thrombospondin-1, and stimulates THBS1 transcription. Based on the analogy with the ITGA2B gene transcription, transcription of THBS1 is significantly upregulated by PRMT1-dependent arginine methylation of RUNX1, which interferes with the recruitment of the SIN3A (or, possibly, SIN3B) co-repressor (Zhao et al. 2008). The transcription activator complex at the THBS1 gene promoter includes the RUNX1:CBFB complex, PRMT1, the GATA1:ZFPM1 complex, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), and the WDR5-containing histone methyltransferase MLL complex. The MLL complex produces the activating H3K4me3 mark on nucleosomes associated with RUNX1-regulated megakaryocyte promoters (Herglotz et al. 2013). The presence of the H3K4me3 mark is characteristic of the activated THBS1 promoter (Michaud-Levesque and Richard 2009).
The transcription repressor complex at the THBS1 promoter is formed when SIN3A (or possibly SIN3B) co-repressor binds to the RUNX1:CBFB complex along with histone arginine methyltransferase PRMT6 and histone deacetylase HDAC1. Histone H3 arginine methylation by PRMT6 interferes with methylation of H3K4me2 to generate the activating H3K4me3 mark at RUNX1-regulated megakaryocyte promoters (Herglotz et al. 2013), including THBS1 promoter (Michaud-Levesque and Richard 2009).
Thrombospondin-1, encoded by the THBS1 gene, forms homotrimers which can be detected in many different cell types and are very abundant in platelet alpha granules. While THBS1 is not necessary for platelet aggregation, it contributes to stabilization of the platelet aggregate (Bonnefoy and Hoylaerts 2008).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [ "R-HSA-8936978" ], "output_participant_list": [ "R-HSA-549142" ], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "Q96LA8-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q13547-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8936995", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936995" } ] }, { "id": "R-HSA-8937016", "name": "Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter", "equation": "", "summary": "The WDR5-containing histone methyltransferase MLL complex, recruited to the THBS1 (TSP-1) promoter via RUNX1 (and possibly GATA1), is assumed to methylate histone H3 on dimethylated lysine residue K4 (K5 when taking into account the initiator methionine), producing the H3K4me3 mark. The H3K4me3 mark is characteristic of nucleosome associated with transcriptionally active promoters of megakaryocyte-specific genes (Herglotz et al. 2013) and the appearance of the H3K4me3 mark at the THBS1 promoter coincides with THBS1 transactivation (Michaud-Levesque and Richard 2009).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8937016", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8937016" } ] }, { "id": "R-HSA-8937037", "name": "RUNX1 and GATA1 bind the promoter of the MIR27A gene", "equation": "", "summary": "The RUNX1:CBFB complex can bind to the promoter of the MIR27A gene, encoding microRNA miR-27A (Ben-Ami et al. 2009). Based on analogy with the ITGA2B gene transcription (Zhao et al. 2008), the PRMT1-mediated arginine-methylation increases transcriptional activity of the RUNX1:CBFB complex at the MIR27A gene promoter (Herglotz et al. 2013). In addition to the RUNX1:CBFB complex, the complex of GATA1 and ZFPM1 (FOG1) (Freson et al. 2003) is also recruited to the MIR27A promoter (Herglotz et al. 2013), likely through the interaction between GATA1 and RUNX1 (Elagib et al. 2003). The zinc finger domain of GATA1 is involved in binding to RUNX1 (Xu et al. 2006). Along with RUNX1 and GATA1, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), as well as the WDR5-containing histone methyltransferase MLL complex are also recruited to the MIR27A promoter. Dimethylation of histone H3 on lysine residue K4 (K5 when taking into account the initiator methionine), known as the H3K4me2 mark, is characteristic of nucleosomes associated with megakaryocyte specific promoters, including the MIR27A gene, prior to the onset of differentiation (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8937037", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8937037" } ] }, { "id": "R-HSA-8937050", "name": "Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter", "equation": "", "summary": "The WDR5-containing histone methyltransferase MLL complex, recruited to the MIR27A promoter via RUNX1 (and possibly GATA1), methylates histone H3 on dimethylated lysine residue K4 (K5 when taking into account the initiator methionine), producing the H3K4me3 mark. The H3K4me3 mark is characteristic of nucleosome associated with transcriptionally active promoters of megakaryocyte-specific genes (Herglotz et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q9UPS6-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8937050", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8937050" } ] }, { "id": "R-HSA-8937097", "name": "MIR27A gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6", "equation": "", "summary": "The RUNX1:CBFB complex binds the promoter of the MIR27A gene, encoding microRNA miR-27a, and stimulates MIR27A transcription. Based on the analogy with the ITGA2B gene transcription, transcription of MIR27A is significantly upregulated by PRMT1-dependent arginine methylation of RUNX1, which interferes with the recruitment of the SIN3A (or, possibly, SIN3B) co-repressor (Zhao et al. 2008). The transcription activator complex at the MIR27A gene promoter includes the RUNX1:CBFB complex, PRMT1, the GATA1:ZFPM1 complex, histone acetyltransferases p300 (EP300) and PCAF (KAT2B), and the WDR5-containing histone methyltransferase MLL complex. The MLL complex produces the activating H3K4me3 mark on nucleosomes associated with the MIR27A gene promoter (Herglotz et al. 2013).
The transcription repressor complex at the MIR27A promoter is formed when SIN3A (or possibly SIN3B) co-repressor binds to the RUNX1:CBFB complex along with histone arginine methyltransferase PRMT6 and histone deacetylase HDAC1. Histone H3 arginine methylation by PRMT6 interferes with methylation of H3K4me2 to generate the activating H3K4me3 mark at the MIR27A gene promoter, thus contributing to transcriptional repression (Herglotz et al. 2013).
MicroRNA miR-27a binds the 3'UTR of RUNX1 mRNA and inhibits RUNX1 mRNA translation without affecting RUNX1 mRNA stability. RUNX1 and MIR27A thus constitute a negative feedback loop that regulates megakaryocytic differentiation and may be involved in erythroid/megakaryocytic lineage determination (Ben-Ami et al. 2009).", "cellular_location": "nucleoplasm, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q09472-1", "Q99873-1", "O14686-1", "Q03164-1", "Q9H9G7-1", "Q96LA8-1", "O15047-1", "Q8NEZ4-1", "Q9UMN6-1", "Q13547-1", "Q9UPS6-1", "Q9HCE1-1", "Q92831-1" ], "evidence": [ { "id": "R-HSA-8937097", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8937097" } ] }, { "id": "R-HSA-9676257", "name": "Formation of the SET1A complex", "equation": "", "summary": "SETD1A (also known as SET1A) binds the WRAD complex, consisting of WDR5, RBBP5, ASH2L and DPY30, to form the SET1A complex (Zhang et al. 2012; van Nuland et al. 2013; Alicea-Velazquez et al. 2016). WDR5 plays an important role in the optimal stimulation of SET1A methyltransferase activity by the RBBP5:ASH2L heterodimer (Zhang et al. 2012).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15047-1" ], "evidence": [ { "id": "R-HSA-9676257", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9676257" } ] }, { "id": "R-HSA-9821475", "name": "CXXC1 and WDR82 bind SET1A complex", "equation": "", "summary": "SET1A complex associates with CXXC1 (also known as CFP1) and WDR82 proteins, which interact with the C-terminus and the N-terminus of SETD1A, respectively (Lee et al. 2007; Lee and Skalnik 2008; Wu et al. 2008; van Nuland et al. 2013). The association of CXXC1 and the WRAD complex with the C-terminus of SETD1A increases the protein stability of SETD1A (Lee et al. 2007; Wu et al. 2008). WDR82 binds to RNA polymerase II phosphorylated on serine S5 of heptad repeats during transcription initiation and may act to recruit the SET1A complex to promoters of transcriptionally active genes (Lee and Skalnik 2008). The association of WDR82 with chromatin likely requires prior ubiquitination of histone H2B (Wu et al. 2008). WDR82 may facilitate association of CXXC1 with SETD1A but does not affect the association of SETD1A with the WRAD complex (Lee and Skalnik 2008). Based on quantitative analysis in HeLa cells, CXXC1 may bind the SET1A complex as a dimer (van Nuland et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15047-1" ], "evidence": [ { "id": "R-HSA-9821475", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9821475" } ] }, { "id": "R-HSA-9821486", "name": "HCFC1 binds SET1A complex", "equation": "", "summary": "The SET1A complex binds to HCFC1 (also known as Host cell factor 1 or HCF-1) (Wysocka et al. 2003; Tyagi et al. 2007; Lee and Skalnik 2008). The interaction involves the N-terminal half of HCFC1 and the evolutionarily conserved HCF-1 binding motif EHNY in the C-terminal half of SETD1A (Wysocka et al. 2003), which is not present in SETD1B (Lee et al. 2007). HCFC1 may enable formation of super-complexes that involve the SET1A complex and the SIN3A histone deacetylase complex (HDAC) (Wysocka et al. 2003). HCFC1 may enable association of the SET1A complex with E2F proteins, leading to the recruitment of SET1A complexes to promoters of E2F-target genes (Tyagi et al. 2007). Antibodies against WDR82, a protein that binds to the core SET1A complex, can pull down HCFC1, so HCFC1 is shown to bind to the SET1A complex or the SET1A complex associated with CXXC1 and WDR82 (Wu et al. 2008; van Nuland et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15047-1" ], "evidence": [ { "id": "R-HSA-9821486", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9821486" } ] }, { "id": "R-HSA-9821931", "name": "BOD1L1 binds SET1A complex", "equation": "", "summary": "SET1A complex, associated with CXXC1 (CFP1) and WDR82, binds to BOD1L1 (also known as BOD1L) (van Nuland et al. 2013). The N-terminal part of BOD1L1 contains a region with sequence homology to the yeast Shg1, a component of the yeast COMPASS complex, and this region of BOD1L1 is necessary and sufficient for the interaction with SETD1A (Higgs et al. 2018). The SET1A complex bound to BOD1L1 is recruited to stalled replication forks, likely through interaction of BOD1L1 with FANCD2, where SETD1A-catalyzed H3K4 methylation prevents deleterious fork resection (Higgs et al. 2018). In addition, H3K4 methylation by the SET1A complex, recruited to DNA double strand breaks (DSBRs) by BOD1L1, facilitates recruitment of RIF1, thus promoting non-homologous end joining (NHEJ)-mediated repair of DSBRs (Bayley et al. 2022).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O15047-1" ], "evidence": [ { "id": "R-HSA-9821931", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9821931" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-549142", "participant_name": "THBS1 trimer [platelet alpha granule lumen]", "crossref": [ { "id": "CPX-1785", "database": "ComplexPortal", "url": "" } ] }, { "participant_id": "R-HSA-55861", "participant_name": "GP1BA [plasma membrane]", "crossref": [ { "id": "1SQ0", "database": "PDB", "url": "" }, { "id": "P07359", "database": "Pharos - Targets", "url": "" }, { "id": "4C2B", "database": "PDB", "url": "" }, { "id": "1M0Z", "database": 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"url": "" }, { "id": "2VDK", "database": "PDB", "url": "" }, { "id": "2VC2", "database": "PDB", "url": "" }, { "id": "2N9Y", "database": "PDB", "url": "" }, { "id": "P08514", "database": "Pharos - Targets", "url": "" }, { "id": "7TMZ", "database": "PDB", "url": "" }, { "id": "7UK9", "database": "PDB", "url": "" }, { "id": "7UKP", "database": "PDB", "url": "" }, { "id": "ITA2B_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENSG00000005961", "database": "Ensembl", "url": "" }, { "id": "7UDH", "database": "PDB", "url": "" }, { "id": "7UCY", "database": "PDB", "url": "" }, { "id": "P08514", "database": "UniProt", "url": "" }, { "id": "ITA2B_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "7THO", "database": "PDB", "url": "" }, { "id": "7KN0", "database": "PDB", "url": "" }, { "id": "1KUZ", "database": "PDB", "url": "" }, { "id": "7UBR", "database": "PDB", "url": "" }, { "id": "2VDM", "database": "PDB", "url": "" }, { "id": "3ZE0", "database": 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"url": "" }, { "id": "HMDBP02103", "database": "HMDB Protein", "url": "" }, { "id": "4Z7O", "database": "PDB", "url": "" }, { "id": "7UDG", "database": "PDB", "url": "" }, { "id": "1M8O", "database": "PDB", "url": "" }, { "id": "ENSG00000005961", "database": "OpenTargets", "url": "" }, { "id": "2K1A", "database": "PDB", "url": "" }, { "id": "XP_011523051.1", "database": "RefSeq", "url": "" }, { "id": "3ZDZ", "database": "PDB", "url": "" }, { "id": "7UE0", "database": "PDB", "url": "" }, { "id": "ENSP00000262407", "database": "Ensembl", "url": "" }, { "id": "7SC4", "database": "PDB", "url": "" }, { "id": "3NIF", "database": "PDB", "url": "" }, { "id": "7U9V", "database": "PDB", "url": "" }, { "id": "2VDR", "database": "PDB", "url": "" } ] }, { "participant_id": "R-HSA-8935722", "participant_name": "ITGA2B gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000005961", "database": "ENSEMBL", "url": "" } ] }, { "participant_id": "R-HSA-8936595", "participant_name": "GP1BA gene 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N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "A0A0G2K1E3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2K1E3" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "A0A0G2K1E3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2K1E3" } ] } ] }, { "uniprot_ac": "A0A8I6A4Z1", "gene_name": "Kmt2c", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "A0A8I6A4Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A4Z1" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "A0A8I6A4Z1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A8I6A4Z1" } ] } ] }, { "uniprot_ac": "D4ADE5", "gene_name": "Setd7", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone 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"P55200", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55200" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "P55200", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55200" } ] } ] }, { "uniprot_ac": "P58467", "gene_name": "Setd4", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "P58467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58467" } ] }, { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "P58467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58467" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "P58467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58467" } ] } ] }, { "uniprot_ac": "Q03164", "gene_name": "KMT2A", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q03164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03164" } ] }, { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q03164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03164" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q03164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03164" } ] } ] }, { "uniprot_ac": "Q09472", "gene_name": "EP300", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q09472", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q09472" } ] } ] }, { "uniprot_ac": "Q13547", "gene_name": "HDAC1", "activity": [ { "ec_number": "3.5.1.98", "activity": "H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl-[histone].", "evidence": [ { "id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13547" } ] }, { "ec_number": "3.5.1.98", "activity": "", "evidence": [ { "id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13547" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13547", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13547" } ] } ] }, { "uniprot_ac": "Q54J80", "gene_name": "", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q54J80", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54J80" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q54J80", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54J80" } ] } ] }, { "uniprot_ac": "Q6PDK2", "gene_name": "Kmt2d", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q6PDK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PDK2" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q6PDK2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6PDK2" } ] } ] }, { "uniprot_ac": "Q86TU7", "gene_name": "SETD3", "activity": [ { "ec_number": "2.1.1.85", "activity": "L-histidyl-[protein] + S-adenosyl-L-methionine = H(+) + N(tele)-methyl-L-histidyl-[protein] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q86TU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TU7" } ] }, { "ec_number": "2.1.1.85", "activity": "", "evidence": [ { "id": "Q86TU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86TU7" } ] } ] }, { "uniprot_ac": "Q8BRH4", "gene_name": "Kmt2c", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q8BRH4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BRH4" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q8BRH4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BRH4" } ] } ] }, { "uniprot_ac": "Q8CFT2", "gene_name": "Setd1b", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q8CFT2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CFT2" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q8CFT2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8CFT2" } ] } ] }, { "uniprot_ac": "Q8NEZ4", "gene_name": "KMT2C", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q8NEZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEZ4" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q8NEZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NEZ4" } ] } ] }, { "uniprot_ac": "Q8VHL1", "gene_name": "Setd7", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q8VHL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VHL1" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q8VHL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VHL1" } ] } ] }, { "uniprot_ac": "Q8WTS6", "gene_name": "SETD7", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q8WTS6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WTS6" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q8WTS6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WTS6" } ] } ] }, { "uniprot_ac": "Q92831", "gene_name": "KAT2B", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92831" } ] }, { "ec_number": "2.3.1.57", "activity": "acetyl-CoA + an alkane-alpha,omega-diamine = an N-acetylalkane-alpha,omega-diamine + CoA + H(+).", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92831" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92831", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92831" } ] } ] }, { "uniprot_ac": "Q96LA8", "gene_name": "PRMT6", "activity": [ { "ec_number": "2.1.1.319", "activity": "L-arginyl-[protein] + 2 S-adenosyl-L-methionine = 2 H(+) + N(omega),N(omega)-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q96LA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96LA8" } ] }, { "ec_number": "2.1.1.319", "activity": "", "evidence": [ { "id": "Q96LA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96LA8" } ] } ] }, { "uniprot_ac": "Q99873", "gene_name": "PRMT1", "activity": [ { "ec_number": "2.1.1.319", "activity": "L-arginyl-[protein] + 2 S-adenosyl-L-methionine = 2 H(+) + N(omega),N(omega)-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q99873", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99873" } ] }, { "ec_number": "2.1.1.319", "activity": "", "evidence": [ { "id": "Q99873", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99873" } ] } ] }, { "uniprot_ac": "Q9BZ95", "gene_name": "NSD3", "activity": [ { "ec_number": "2.1.1.370", "activity": "L-lysyl(4)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZ95" } ] }, { "ec_number": "2.1.1.371", "activity": "L-lysyl(27)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(27)-[histone H3] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZ95" } ] }, { "ec_number": "2.1.1.371", "activity": "", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZ95" } ] }, { "ec_number": "2.1.1.370", "activity": "", "evidence": [ { "id": "Q9BZ95", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BZ95" } ] } ] }, { "uniprot_ac": "Q9H7B4", "gene_name": "SMYD3", "activity": [ { "ec_number": "2.1.1.354", "activity": "L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9H7B4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7B4" } ] }, { "ec_number": "2.1.1.354", "activity": "", "evidence": [ { "id": "Q9H7B4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H7B4" } ] } ] }, { "uniprot_ac": "Q9H9G7", "gene_name": "AGO3", "activity": [ { "ec_number": "3.1.26.n2", "activity": "Endonucleolytic cleavage to 5'-phosphomonoester.", "evidence": [ { "id": "Q9H9G7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H9G7" } ] }, { "ec_number": "3.1.26.n2", "activity": "", "evidence": [ { "id": "Q9H9G7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H9G7" } ] } ] }, { "uniprot_ac": "Q9HCE1", "gene_name": "MOV10", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9HCE1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HCE1" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "Q9HCE1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HCE1" } ] } ] }, { "uniprot_ac": "Q9NQV7", "gene_name": "PRDM9", "activity": [ { "ec_number": "2.1.1.359", "activity": "L-lysyl(36)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(36)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NQV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQV7" } ] }, { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q9NQV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQV7" } ] }, { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NQV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQV7" } ] }, { "ec_number": "2.1.1.354", "activity": "L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NQV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQV7" } ] }, { "ec_number": "2.1.1.362", "activity": "N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6),N(6)-dimethyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NQV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQV7" } ] }, { "ec_number": "2.1.1.361", "activity": "L-lysyl(20)-[histone H4] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(20)-[histone H4] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NQV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQV7" } ] } ] }, { "uniprot_ac": "Q9NQW5", "gene_name": "PRDM7", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q9NQW5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQW5" } ] } ] }, { "uniprot_ac": "Q9NVD3", "gene_name": "SETD4", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q9NVD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NVD3" } ] }, { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9NVD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NVD3" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q9NVD3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NVD3" } ] } ] }, { "uniprot_ac": "Q9UMN6", "gene_name": "KMT2B", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9UMN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UMN6" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q9UMN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UMN6" } ] } ] }, { "uniprot_ac": "Q9UPS6", "gene_name": "SETD1B", "activity": [ { "ec_number": "2.1.1.364", "activity": "L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9UPS6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPS6" } ] }, { "ec_number": "2.1.1.364", "activity": "", "evidence": [ { "id": "Q9UPS6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UPS6" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 256, 271, 274, 275, 278, 279, 282, 288, 290, 291, 301 ], "snv_sites": [ 156, 256, 271, 274, 278, 279, 288, 289, 301, 402, 574, 1012, 1036, 1037, 1040, 1381, 1467, 1634 ], "glycation_sites": 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"table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 11 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": 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}