ELL Gene

HGNC Family	Protein phosphatase 1 regulatory subunits (PPP1R)
Name	elongation factor RNA polymerase II
Description	Enables phosphatase binding activity. Involved in positive regulation of DNA-templated transcription and snRNA transcription. Located in cytosol; euchromatin; and nuclear body. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "t", "text": "<div>\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Members of the ELL family of RNA polymerase II transcription elongation factors promote transcript processivity by relieving promoter‐proximal pausing and stimulating productive elongation. In several contexts, ELL proteins act as core components of larger multiprotein complexes—such as the super elongation complex (SEC)—that incorporate additional elongation regulators including positive transcription elongation factor b (P‑TEFb) and scaffolding proteins like AFF4. In MLL‐rearranged leukemias, for instance, an ELL fusion with the N terminus of MLL juxtaposes the potent transcription‐promoting activity of ELL with MLL target gene regulatory elements, leading to aberrant activation of genes (e.g., HOXA cluster and MEIS1) that drive leukemogenesis (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Similarly, in HIV‐1 transcription, ELL family members (notably ELL2) are recruited—via bridging factors such as Tat and AFF4—to couple with P‑TEFb, thereby accelerating RNA polymerase II elongation and robust viral gene expression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In plasma cells, ELL2 has been shown to enhance both polyadenylation and exon skipping of immunoglobulin heavy‐chain pre–mRNAs, processes that favor the production of secreted over membrane‐bound antibody isoforms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, distinct ELL family proteins such as Ell3 contribute to developmental gene regulation by marking enhancers in embryonic stem cells and facilitating the assembly of SEC components upon differentiation signals."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Structural studies further reveal that the C‐terminal regions of the ELL family share homology with regulatory domains in unrelated proteins (for example, the occludin OCEL region), suggesting that similar molecular surfaces may be repurposed to mediate protein–protein interactions critical for transcriptional control."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings underscore an essential role for ELL factors in coordinating the progression of transcription elongation in both normal developmental and disease‐associated contexts.\n "}]}, {"type": "t", "text": "\n</div>"}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Chengqi Lin, Edwin R Smith, Hidehisa Takahashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2010.01.026"}], "href": "https://doi.org/10.1016/j.molcel.2010.01.026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20159561"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20159561"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Bijan Sobhian, Nadine Laguette, Ahmad Yatim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HIV-1 Tat assembles a multifunctional transcription elongation complex and stably associates with the 7SK snRNP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2010.04.012"}], "href": "https://doi.org/10.1016/j.molcel.2010.04.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20471949"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20471949"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Man Mohan, Chengqi Lin, Erin Guest, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Licensed to elongate: a molecular mechanism for MLL-based leukaemogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Rev Cancer (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nrc2915"}], "href": "https://doi.org/10.1038/nrc2915"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20844554"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20844554"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Nanhai He, Min Liu, Joanne Hsu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "HIV-1 Tat and host AFF4 recruit two transcription elongation factors into a bifunctional complex for coordinated activation of HIV-1 transcription."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molcel.2010.04.013"}], "href": "https://doi.org/10.1016/j.molcel.2010.04.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20471948"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20471948"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kathleen Martincic, Serkan A Alkan, Alys Cheatle, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcription elongation factor ELL2 directs immunoglobulin secretion in plasma cells by stimulating altered RNA processing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Immunol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ni.1786"}], "href": "https://doi.org/10.1038/ni.1786"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19749764"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19749764"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Chengqi Lin, Alexander S Garruss, Zhuojuan Luo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The RNA Pol II elongation factor Ell3 marks enhancers in ES cells and primes future gene activation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2012.12.015"}], "href": "https://doi.org/10.1016/j.cell.2012.12.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23273992"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23273992"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yuanhe Li, Alan S Fanning, James M Anderson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structure of the conserved cytoplasmic C-terminal domain of occludin: identification of the ZO-1 binding surface."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2005.07.017"}], "href": "https://doi.org/10.1016/j.jmb.2005.07.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16081103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16081103"}]}]}]}
Synonyms	MEN, PPP1R68, ELL1, C19ORF17
Proteins	ELL_HUMAN
NCBI Gene ID	8178
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ELL has 6,382 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 116 datasets.

Click the + buttons to view associations for ELL from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ELL Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by ELL gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ELL gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ELL gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ELL gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ELL gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ELL gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ELL gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ELL gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ELL gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ELL gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ELL gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with ELL gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ELL protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ELL gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ELL gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ELL gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ELL gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ELL protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ELL protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ELL protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ELL protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ELL gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ELL gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ELL gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ELL gene/protein from the curated CTD Gene-Disease Associations dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ELL gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ELL gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ELL gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ELL gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ELL gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ELL gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ELL gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ELL gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ELL gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ELL gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ELL gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ELL from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of ELL gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with ELL gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing ELL from the GeneSigDB Published Gene Signatures dataset.