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SETD1B (Histone-lysine N-methyltransferase SETD1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer and 5 more.
Histone methyltransferase that catalyses 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. Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place. Plays an essential role in regulating the transcriptional programming of multipotent haematopoietic progenitor cells and lymphoid lineage specification during haematopoiesis.
CIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 8 cohorts (1 activating, 7 loss-of-function), covering Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Ovarian Epithelial Tumour, Pancreatic Adenocarcinoma and others.
In plain words · SETD1B (Histone-lysine N-methyltransferase SETD1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer and 5 more.
SETD1B (Histone-lysine N-methyltransferase SETD1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer and 5 more.
Histone methyltransferase that catalyses 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.
No product in this corpus aims at SETD1B yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SETD1B: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining endometrial cancer (1 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer, Pancreatic ductal adenocarcinoma, Gastric & gastro-oesophageal junction cancer, Bladder & urothelial cancer, Lymphoma and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q9UPS6; CIViC gene SETD1B; IntOGen SETD1B; Human Protein Atlas SETD1B tissue; Open Targets ENSG00000139718 associations
First described 1999. Earliest sequence paper UniProt cites for the protein: Kikuno et al, DNA Res, 1999, "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". Source.
Sources: HGNC HGNC:29187 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9UPS6 (protein name, function text, keywords and locations (REST API)); CIViC gene SETD1B (1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)); IntOGen SETD1B (driver in 8 cohorts (Act 1, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Histone methyltransferase that catalyses 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. Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place. Plays an essential role in regulating the transcriptional programming of multipotent haematopoietic progenitor cells and lymphoid lineage specification during haematopoiesis. Location: Nucleus; Nucleus speckle; Chromosome; Cytoplasm (UniProt). Locus 12q24.31 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Adrenal gland, Cerebral cortex, Duodenum, Rectum, Skeletal muscle, Small intestine, Stomach.
Medium only: breast cancer, carcinoid, glioma, liver cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"SETD1B" OR ABSTRACT:"SETD1B" OR TITLE:"SET domain containing 1B, histone lysine methyltransferase" OR ABSTRACT:"SET domain containing 1B, histone lysine methyltransferase" OR TITLE:"Histone-lysine N-methyltransferase SETD1B" OR ABSTRACT:"Histone-lysine N-methyltransferase SETD1B" OR TITLE:"KIAA1076" OR ABSTRACT:"KIAA1076" OR TITLE:"Set1B" OR ABSTRACT:"Set1B" OR TITLE:"KMT2G" OR ABSTRACT:"KMT2G") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about SETD1B, not a curated reading list.