ELL
ELL (RNA polymerase II elongation factor ELL) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Ovarian cancer, Breast cancer, Skin cancer and 1 more.
Overview
Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription.
Open Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.53, genetic association 0.27, somatic mutation 0.98). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Melanoma, Ovarian Epithelial Tumour.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · ELL (RNA polymerase II elongation factor ELL) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Ovarian cancer, Breast cancer, Skin cancer and 1 more.
- 1 · What it is
ELL (RNA polymerase II elongation factor ELL) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Ovarian cancer, Breast cancer, Skin cancer and 1 more.
- 2 · What goes wrong in cancer
Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA.
- 3 · How drugs use it
No product in this corpus aims at ELL yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
External identifiers
Sources: HGNC HGNC:23114 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P55199 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000105656 (association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: skin cancer 0.51, breast cancer 0.55 (GraphQL API, CC0)); IntOGen ELL (driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription. ELL also plays an early role before its assembly into in the SEC complex by stabilising RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilise the pre-initiation complex and early elongation. Location: Nucleus; Nucleus speckle; Nucleus, Cajal body (UniProt). Locus 19p13.11 (HGNC).
- Ovarian cancer: IntOGen driver in 1 cohort (OVT)
- Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)
- Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)
- Melanoma: IntOGen driver in 1 cohort (MEL)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier "cohort-driver" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"ELL" OR ABSTRACT:"ELL" OR TITLE:"elongation factor for RNA polymerase II" OR ABSTRACT:"elongation factor for RNA polymerase II" OR TITLE:"RNA polymerase II elongation factor ELL" OR ABSTRACT:"RNA polymerase II elongation factor ELL" OR TITLE:"Men" OR ABSTRACT:"Men" OR TITLE:"ELL1" OR ABSTRACT:"ELL1" OR TITLE:"PPP1R68" OR ABSTRACT:"PPP1R68") 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 ELL, not a curated reading list.