ELL elongation factor for RNA polymerase II [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELLprovided by HGNC
Official Full Name: elongation factor for RNA polymerase IIprovided by HGNC
Primary source: HGNC:HGNC:23114
See related: Ensembl:ENSG00000105656 MIM:600284; AllianceGenome:HGNC:23114
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MEN; ELL1; PPP1R68; C19orf17
Summary: 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, Dec 2024]
Expression: Broad expression in bone marrow (RPKM 9.4), testis (RPKM 9.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18442663..18522070, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (18578028..18657425, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18553473..18632880, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Stratification and therapeutic potential of ELL in cytogenetic normal acute myeloid leukemia.
Title: Stratification and therapeutic potential of ELL in cytogenetic normal acute myeloid leukemia.
ATM-mediated ELL phosphorylation enhances its self-association through increased EAF1 interaction and inhibits global transcription during genotoxic stress.
Title: ATM-mediated ELL phosphorylation enhances its self-association through increased EAF1 interaction and inhibits global transcription during genotoxic stress.
ELL Facilitates RNA Polymerase II-Mediated Transcription of Human Epidermal Proliferation Genes.
Title: ELL Facilitates RNA Polymerase II-Mediated Transcription of Human Epidermal Proliferation Genes.
E1A-associated p300 protein -mediated site-specific acetylation increases, whereas histone deacetylase 3-mediated deacetylation decreases, transcriptional elongation factor ELL stability through polyubiquitylation by the E3 ubiquitin ligase Siah1. Knockdown of human cell cycle and apoptosis regulator 2 reduces ELL levels and expression of a significant number of genes, including those involved in glucose metabolism.
Title: DBC1, p300, HDAC3, and Siah1 coordinately regulate ELL stability and function for expression of its target genes.
The results indicate that p53 interferes with the interaction between ELL/EAF and ICE1 and represses transcription of small nuclear RNA genes by Pol II.
Title: p53 represses the transcription of snRNA genes by preventing the formation of little elongation complex.
This work reveals a previously unrecognized function for ELL as an E3 ubiquitin ligase for c-Myc and a potential tumour suppressor.
Title: ELL targets c-Myc for proteasomal degradation and suppresses tumour growth.
The Tax oncogene enhances ELL incorporation into p300 and P-TEFb containing protein complexes to activate transcription.
Title: The Tax oncogene enhances ELL incorporation into p300 and P-TEFb containing protein complexes to activate transcription.
eleven-nineteen lysine-rich leukemia protein enhanced E2F1 deacetylation via recruitment of histone deacetylase 1
Title: ELL inhibits E2F1 transcriptional activity by enhancing E2F1 deacetylation via recruitment of histone deacetylase 1.
ELL is an essential player for RNA Pol II restart during cellular DNA damage response.
Title: ELL, a novel TFIIH partner, is involved in transcription restart after DNA repair.
Studies indicate that the super elongation complex (SEC) consisting of ELL, P-TEFb (CDK9) and MLL required for rapid transcriptional induction in the presence or absence of paused RNA polymerase II (Pol II).
Title: The super elongation complex (SEC) family in transcriptional control.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat forms at least two distinct P-TEFb-containing complexes. Tatcom1 is composed of P-TEFb, AF9, ENL, ELL, AFF1, AFF4, and PAF1, presenting strong CTD-kinase activity, while Tatcom2 consists of 7SK, LARP7, and MEPCE with two molecules of Tat/P-TEFb	PubMed
	tat	HIV-1 Tat directly interacts with ELL as demonstrated by Tat-affinity column purification	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146351 (e-PCR)
- UniSTS:172589

SGC31804 (e-PCR)
- UniSTS:27236

D1S3149 (e-PCR)
- UniSTS:14471

WI-18990 (e-PCR)
- UniSTS:37523

SHGC-146353 (e-PCR)
- UniSTS:183206

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription, elongation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase III	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription elongation by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription elongation by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in snRNA transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in snRNA transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in snRNA transcription by RNA polymerase III	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription elongation by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in histone locus body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of transcription elongation factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription elongation factor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: RNA polymerase II elongation factor ELL

Names: ELL gene (11-19 lysine-rich leukemia gene); ELL/KMT2A fusion protein; KMT2A/ELL fusion protein; eleven-nineteen lysine-rich leukemia protein; elongation factor RNA polymerase II; protein phosphatase 1, regulatory subunit 68

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006532.4 → NP_006523.1 RNA polymerase II elongation factor ELL

See identical proteins and their annotated locations for NP_006523.1

Status: VALIDATED

Source sequence(s)

BC033673, BI458899, U16282

Consensus CDS

CCDS12380.1

UniProtKB/Swiss-Prot

P55199

UniProtKB/TrEMBL

A8KAP0

Related

ENSP00000262809.3, ENST00000262809.9

Conserved Domains (2) summary

pfam07303
Location:516 → 613

Occludin_ELL; Occludin homology domain

pfam10390
Location:6 → 290

ELL; RNA polymerase II elongation factor ELL

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

18442663..18522070 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017027335.2 → XP_016882824.1 RNA polymerase II elongation factor ELL isoform X1

UniProtKB/TrEMBL

Q59HG4, U3KQ90

Related

ENSP00000475648.2, ENST00000596124.3
XM_047439479.1 → XP_047295435.1 RNA polymerase II elongation factor ELL isoform X1

UniProtKB/TrEMBL

Q59HG4, U3KQ90
XM_017027337.3 → XP_016882826.1 RNA polymerase II elongation factor ELL isoform X3
XM_017027336.2 → XP_016882825.1 RNA polymerase II elongation factor ELL isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

18578028..18657425 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322256.1 → XP_054178231.1 RNA polymerase II elongation factor ELL isoform X1

UniProtKB/TrEMBL

Q59HG4, U3KQ90
XM_054322255.1 → XP_054178230.1 RNA polymerase II elongation factor ELL isoform X1

UniProtKB/TrEMBL

Q59HG4, U3KQ90
XM_054322258.1 → XP_054178233.1 RNA polymerase II elongation factor ELL isoform X3
XM_054322257.1 → XP_054178232.1 RNA polymerase II elongation factor ELL isoform X2