ELL (eleven nineteen lysin rich leukemia gene)

MEN1 and MEN2), ELL-PEN, Genes Proteins Oncogenes.">

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ELL (eleven nineteen lysin rich leukemia gene)

Written	2003-04	Jay L. Hess
		Department of Pathology, The University of Michigan, M5240 Medical Science I, 1301 Catherine Avenue, Ann Arbor, MI 48109-0602, USA

This article is an update of :

	1997-12	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)	MEN (myeloid eleven nineteen translocation: <-- WARNING: unrelated to MEN1 and MEN2)
	ELL-PEN
HGNC (Hugo)	ELL
HGNC Alias symb	Men
	ELL1
	PPP1R68
HGNC Alias name	protein phosphatase 1, regulatory subunit 68
	eleven-nineteen lysine-rich leukemia gene
HGNC Previous name	C19orf17
HGNC Previous name	chromosome 19 open reading frame 17
	elongation factor RNA polymerase II
LocusID (NCBI)	8178
Atlas_Id	10
Location	19p13.11 [Link to chromosome band 19p13]
Location_base_pair	Starts at 18442663 and ends at 18522070 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping ELL.png]
Local_order	proximal from LYL1 in 19p13.2-p13.1; ENL and E2A are more distal in 19p13.3

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

ALDH1A1 (9q21.13)::ELL (19p13.11)	CDC37 (19p13.2)::ELL (19p13.11)	ELL (19p13.11)::CISD3 (17q12)
ELL (19p13.11)::CLIP2 (7q11.23)	ELL (19p13.11)::CRLF1 (19p13.11)	ELL (19p13.11)::FKBP8 (19p13.11)
ELL (19p13.11)::HERC2P7 (15q11.2)	ELL (19p13.11)::KMT2A (11q23.3)	ELL (19p13.11)::MVB12A (19p13.11)
ELL (19p13.11)::R3HCC1 (8p21.3)	ELL (19p13.11)::SMIM7 (19p13.11)	ELL (19p13.11)::ZNF100 (19p12)
HNRNPD (4q21.22)::ELL (19p13.11)	KMT2A (11q23.3)::ELL (19p13.11)	LSM4 (19p13.11)::ELL (19p13.11)

DNA/RNA

Transcription

alternate splicing; 4.4 and 2.8 kb mRNA; coding sequence: 1.9 kb

Protein

Description	621 amino acids; 68 kDa; contains a Lysin rich domain (basic motif)
Expression	wide; especially in leukocytes, muscle, testis, placenta
Localisation	nuclear, except the nucleolus
Function	RNA polymerase II elongation factor, promotes transcription by suppressing transient pausings. In Drosophila ELL is associated with active sites of transcription in vivo. Overexpression of ELL is toxic, suggesting the normal protein may play a role in the regulation of cell growth and survival.
Homology	ELL2, ELL3

Implicated in

Note

Entity	/AML --> KMT2A-ELL
Disease	mainly M4/M5; treatment related leukemia; all ages
Prognosis	very poor
Cytogenetics	detected with R banding
Hybrid/Mutated Gene	5' MLL - 3' ELL
Abnormal Protein	Similar to other MLL fusion proteins. The amino terminal AT hook and DNA methyltransferase homology regions from from MLL are fused to most of ELL
Oncogenesis	The carboxyl terminal region of ELL is required for transformation by MLL-ELL in murine bone marrow transformation assays. This region has potent transcriptional activating activity, and interacts with EAF1, a protein that shares homology with AF4, LAF4, and AF5q31. Interestingly the EAF1 interacting domain, but not the ELL elongation domain is required for transformation. ELL has also been reported to interact withp53 and inhibit its transcriptional activating activity.

Bibliography

A carboxy-terminal domain of ELL is required and sufficient for immortalization of myeloid progenitors by MLL-ELL.

DiMartino JF, Miller T, Ayton PM, Landewe T, Hess JL, Cleary ML, Shilatifard A

Blood. 2000 ; 96 (12) : 3887-3893.

PMID 11090074

Drosophila ELL is associated with actively elongating RNA polymerase II on transcriptionally active sites in vivo.

Gerber M, Ma J, Dean K, Eissenberg JC, Shilatifard A

The EMBO journal. 2001 ; 20 (21) : 6104-6114.

PMID 11689450

Functional analysis of the leukemia protein ELL: evidence for a role in the regulation of cell growth and survival.

Johnstone RW, Gerber M, Landewe T, Tollefson A, Wold WS, Shilatifard A

Molecular and cellular biology. 2001 ; 21 (5) : 1672-1681.

PMID 11238904

The elongation domain of ELL is dispensable but its ELL-associated factor 1 interaction domain is essential for MLL-ELL-induced leukemogenesis.

Luo RT, Lavau C, Du C, Simone F, Polak PE, Kawamata S, Thirman MJ

Molecular and cellular biology. 2001 ; 21 (16) : 5678-5687.

PMID 11463848

Transcriptional inhibition of p53 by the MLL/MEN chimeric protein found in myeloid leukemia.

Maki K, Mitani K, Yamagata T, Kurokawa M, Kanda Y, Yazaki Y, Hirai H

Blood. 1999 ; 93 (10) : 3216-3224.

PMID 10233872

Identification, cloning, expression, and biochemical characterization of the testis-specific RNA polymerase II elongation factor ELL3.

Miller T, Williams K, Johnstone RW, Shilatifard A

The Journal of biological chemistry. 2000 ; 275 (41) : 32052-32056.

PMID 10882741

Cloning of several species of MLL/MEN chimeric cDNAs in myeloid leukemia with t(11;19)(q23;p13.1) translocation.

Mitani K, Kanda Y, Ogawa S, Tanaka T, Inazawa J, Yazaki Y, Hirai H

Blood. 1995 ; 85 (8) : 2017-2024.

PMID 7718874

Structure and function of RNA polymerase II elongation factor ELL. Identification of two overlapping ELL functional domains that govern its interaction with polymerase and the ternary elongation complex.

Shilatifard A, Haque D, Conaway RC, Conaway JW

The Journal of biological chemistry. 1997 ; 272 (35) : 22355-22363.

PMID 9268387

EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein.

Simone F, Polak PE, Kaberlein JJ, Luo RT, Levitan DA, Thirman MJ

Blood. 2001 ; 98 (1) : 201-209.

PMID 11418481

Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1) in acute myeloid leukemia.

Thirman MJ, Levitan DA, Kobayashi H, Simon MC, Rowley JD

Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (25) : 12110-12114.

PMID 7991593

Citation

This paper should be referenced as such :

Hess, JL

ELL (eleven nineteen lysin rich leukemia gene)

Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):104-105.

Free journal version : [ pdf ] [ DOI ]

History of this paper:

Huret, JL. ELL (eleven nineteen lysin rich leukemia gene). Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):65-65.

http://documents.irevues.inist.fr/bitstream/handle/2042/32054/12-1997-ELLID10.pdf

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]

11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
t(11;16)(q23;p13.3) KMT2A::CREBBP
t(11;19)(q23;p13.1) KMT2A::ELL
t(11;19)(q23;p13) KMT2A::SH3GL1
Therapy-Related Hematopoietic Neoplasia

External links

	Nomenclature
HGNC (Hugo)	ELL 23114
	Cards
Atlas	ELLID10
Atlas Explorer : (Salamanque)	ELL
Entrez_Gene (NCBI)	ELL elongation factor for RNA polymerase II
Aliases	C19orf17; ELL1; MEN; PPP1R68
GeneCards (Weizmann)	ELL
Ensembl hg19 (Hinxton)	ENSG00000105656 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000105656 [Gene_View] ENSG00000105656 [Sequence] chr19:18442663-18522070 [Contig_View] ELL [Vega]
ICGC DataPortal	ENSG00000105656
TCGA cBioPortal	ELL
AceView (NCBI)	ELL
Genatlas (Paris)	ELL
SOURCE (Princeton)	ELL
Genetics Home Reference (NIH)	ELL
	Genomic and cartography
GoldenPath hg38 (UCSC)	ELL - chr19:18442663-18522070 - 19p13.11 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	ELL - 19p13.11 [Description] (hg19-Feb_2009)
GoldenPath	ELL - 19p13.11 [CytoView hg19] ELL - 19p13.11 [CytoView hg38]
ImmunoBase	ENSG00000105656
Genome Data Viewer NCBI	ELL [Mapview hg19]
OMIM	600284
	Gene and transcription
Genbank (Entrez)	AB208794 AF157562 AK225481 AK293105 AK309878
RefSeq transcript (Entrez)	NM_006532
Consensus coding sequences : CCDS (NCBI)	ELL
Gene Expression	ELL [ NCBI-GEO ] ELL [ EBI - ARRAY_EXPRESS ] ELL [ SEEK ] ELL [ MEM ]
Gene Expression Viewer (FireBrowse)	ELL [ Firebrowse - Broad ]
Genevisible	Expression of ELL in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	8178
GTEX Portal (Tissue expression)	ELL
Human Protein Atlas	ENSG00000105656-ELL [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P55199 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P55199 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P55199
PhosPhoSitePlus	P55199
Domains : Interpro (EBI)	E3_ELL-like ELL ELL/occludin ELL_N Occludin_ELL WH_DNA-bd_sf
Domain families : Pfam (Sanger)	ELL (PF10390) Occludin_ELL (PF07303)
Domain families : Pfam (NCBI)	pfam10390 pfam07303
Conserved Domain (NCBI)	ELL
PDB (RSDB)	2DOA
PDB Europe	2DOA
PDB (PDBSum)	2DOA
PDB (IMB)	2DOA
Structural Biology KnowledgeBase	2DOA
SCOP (Structural Classification of Proteins)	2DOA
CATH (Classification of proteins structures)	2DOA
Superfamily	P55199
AlphaFold pdb e-kb	P55199
Human Protein Atlas [tissue]	ENSG00000105656-ELL [tissue]
HPRD	02615
	Protein Interaction databases
DIP (DOE-UCLA)	P55199
IntAct (EBI)	P55199
BioGRID	ELL
STRING (EMBL)	ELL
ZODIAC	ELL
	Ontologies - Pathways
QuickGO	P55199
Ontology : AmiGO	euchromatin euchromatin cis-regulatory region sequence-specific DNA binding in utero embryonic development protein binding nucleoplasm nucleoplasm cytosol transcription elongation from RNA polymerase II promoter transcription elongation factor complex transcription elongation factor complex Cajal body nuclear body nuclear speck phosphatase binding positive regulation of DNA-templated transcription, elongation positive regulation of transcription elongation from RNA polymerase II promoter positive regulation of transcription elongation from RNA polymerase II promoter histone locus body snRNA transcription by RNA polymerase II snRNA transcription by RNA polymerase II snRNA transcription by RNA polymerase III positive regulation of transcription by RNA polymerase III
Ontology : EGO-EBI	euchromatin euchromatin cis-regulatory region sequence-specific DNA binding in utero embryonic development protein binding nucleoplasm nucleoplasm cytosol transcription elongation from RNA polymerase II promoter transcription elongation factor complex transcription elongation factor complex Cajal body nuclear body nuclear speck phosphatase binding positive regulation of DNA-templated transcription, elongation positive regulation of transcription elongation from RNA polymerase II promoter positive regulation of transcription elongation from RNA polymerase II promoter histone locus body snRNA transcription by RNA polymerase II snRNA transcription by RNA polymerase II snRNA transcription by RNA polymerase III positive regulation of transcription by RNA polymerase III
REACTOME	P55199 [protein]
REACTOME Pathways	R-HSA-75955 [pathway]
NDEx Network	ELL
Atlas of Cancer Signalling Network	ELL
Wikipedia pathways	ELL
	Orthology - Evolution
OrthoDB	8178
GeneTree (enSembl)	ENSG00000105656
Phylogenetic Trees/Animal Genes : TreeFam	ELL
Homologs : HomoloGene	ELL
Homology/Alignments : Family Browser (UCSC)	ELL
	Gene fusions - Rearrangements
Fusion : Mitelman	CDC37::ELL [19p13.2/19p13.11]
Fusion : Mitelman	ELL::CISD3 [19p13.11/17q12]
Fusion : Mitelman	ELL::CLIP2 [19p13.11/7q11.23]
Fusion : Mitelman	ELL::CRLF1 [19p13.11/19p13.11]
Fusion : Mitelman	ELL::MVB12A [19p13.11/19p13.11]
Fusion : Mitelman	ELL::SMIM7 [19p13.11/19p13.11]
Fusion : COSMIC	KMT2A [11q23.3] - ELL [19p13.11] [fusion_1988] [fusion_1990] [fusion_1992] [fusion_1994] [fusion_1996] [fusion_1997]
Fusion : FusionHub	AF1Q--ELL ALDH1A1--ELL CDC37--ELL ELL--ARL4D ELL--ARRDC2 ELL--BACE2 ELL--C19ORF42 ELL--CDS2 ELL--CISD3 ELL--CRLF1
	ELL--EFHD2 ELL--EPS15 ELL--FAM125A ELL--FKBP8 ELL--HERC2P7 ELL--HNRNPD ELL--INSR ELL--KMT2A ELL--LDLRAD1 ELL--METRNL
	ELL--MKNK2 ELL--MLL ELL--NAA25 ELL--R3HCC1 ELL--RABGGTA ELL--SMIM7 ELL--SYK ELL--UBA52 ELL--ZNF100 HNRNPD--ELL
	KMT2A--ELL LSM4--ELL MLL--ELL SHC2--ELL SIK3--ELL ZNF709--ELL
Fusion : Quiver	ELL
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	ELL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	ELL
dbVar	ELL
ClinVar	ELL
Monarch	ELL
1000_Genomes	ELL
Exome Variant Server	ELL
GNOMAD Browser	ENSG00000105656
Varsome Browser	ELL
ACMG	ELL variants
Varity	P55199
Genomic Variants (DGV)	ELL [DGVbeta]
DECIPHER	ELL [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	ELL
	Mutations
ICGC Data Portal	ELL
TCGA Data Portal	ELL
Broad Tumor Portal	ELL
OASIS Portal	ELL [ Somatic mutations - Copy number]
Cancer Gene: Census	ELL
Somatic Mutations in Cancer : COSMIC	ELL [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	ELL
Mutations and Diseases : HGMD	ELL
LOVD (Leiden Open Variation Database)	[gene] [transcripts] [variants]
BioMuta	ELL
DgiDB (Drug Gene Interaction Database)	ELL
DoCM (Curated mutations)	ELL
CIViC (Clinical Interpretations of Variants in Cancer)	ELL
OncoKB	ELL
NCG (London)	ELL
Cancer3D	ELL
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	600284
Orphanet
DisGeNET	ELL
Medgen	ELL
Genetic Testing Registry	ELL
NextProt	P55199 [Medical]
GENETests	ELL
Target Validation	ELL
Huge Navigator	ELL [HugePedia]
ClinGen	ELL
	Clinical trials, drugs, therapy
MyCancerGenome	ELL
Protein Interactions : CTD	ELL
Pharm GKB Gene	PA134939610
Pharos	P55199
Clinical trial	ELL
	Miscellaneous
canSAR (ICR)	ELL
Harmonizome	ELL
ARCHS4	ELL
DataMed Index	ELL
	Probes
	Litterature
PubMed	70 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
EVEX	ELL

MEN1%20and%20MEN2)"%5BTI%5D%20OR%20"ELL-PEN"%5BTI%5D%20%29%20AND%20REVIEW%5BPT%5D%20AND%20ENGLISH%5BLA%5D&field=titl&dispmax=50>REVIEW articles	automatic search in PubMed
MEN1%20and%20MEN2)"%5BTI%5D%20OR%20"ELL-PEN"%5BTI%5D%20%29%20AND%202014:2017[DP]%29&field=titl&dispmax=50>Last year publications	automatic search in PubMed

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indexed on : Thu Jan 20 14:06:27 CET 2022

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