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

Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ELL (eleven nineteen lysin rich leukemia gene)

Written1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2003-04Jay L. Hess
Department of Pathology, The University of Michigan, M5240 Medical Science I, 1301 Catherine Avenue, Ann Arbor, MI 48109-0602, USA

(Note : for Links provided by Atlas : click)

Identity

Alias_namesC19orf17
chromosome 19 open reading frame 17
elongation factor RNA polymerase II
Alias_symbol (synonym)Men
ELL1
PPP1R68
Other aliasMEN (myeloid eleven nineteen translocation: <-- WARNING: unrelated to MEN1 and MEN2)
ELL-PEN
HGNC (Hugo) ELL
LocusID (NCBI) 8178
Atlas_Id 10
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 18442663 and ends at 18522127 bp from pter ( according to hg19-Feb_2009)  [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 2016)
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 t(11.19)(q23;p13.1) /AML --> MLL-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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/ELLID10.html
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
inv(2)(p23q13) RANBP2/ALK::t(2;2)(p23;q13) RANBP2/ALK
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;19)(q23;p13.1) KMT2A/ELL
t(11;19)(q23;p13) KMT2A/SH3GL1


External links

Nomenclature
HGNC (Hugo)ELL   23114
Cards
AtlasELLID10
Entrez_Gene (NCBI)ELL  8178  elongation factor for RNA polymerase II
AliasesC19orf17; ELL1; MEN; PPP1R68
GeneCards (Weizmann)ELL
Ensembl hg19 (Hinxton)ENSG00000105656 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105656 [Gene_View]  chr19:18442663-18522127 [Contig_View]  ELL [Vega]
ICGC DataPortalENSG00000105656
TCGA cBioPortalELL
AceView (NCBI)ELL
Genatlas (Paris)ELL
WikiGenes8178
SOURCE (Princeton)ELL
Genetics Home Reference (NIH)ELL
Genomic and cartography
GoldenPath hg38 (UCSC)ELL  -     chr19:18442663-18522127 -  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELL  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblELL - 19p13.11 [CytoView hg19]  ELL - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIELL [Mapview hg19]  ELL [Mapview hg38]
OMIM600284   
Gene and transcription
Genbank (Entrez)AB208794 AF157562 AK225481 AK293105 AK309878
RefSeq transcript (Entrez)NM_006532
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELL
Cluster EST : UnigeneHs.515260 [ NCBI ]
CGAP (NCI)Hs.515260
Alternative Splicing GalleryENSG00000105656
Gene ExpressionELL [ NCBI-GEO ]   ELL [ EBI - ARRAY_EXPRESS ]   ELL [ SEEK ]   ELL [ MEM ]
Gene Expression Viewer (FireBrowse)ELL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8178
GTEX Portal (Tissue expression)ELL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55199   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55199  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55199
Splice isoforms : SwissVarP55199
PhosPhoSitePlusP55199
Domains : Interpro (EBI)ELL    ELL/occludin    ELL_N    Occludin_ELL    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)ELL (PF10390)    Occludin_ELL (PF07303)   
Domain families : Pfam (NCBI)pfam10390    pfam07303   
Conserved Domain (NCBI)ELL
DMDM Disease mutations8178
Blocks (Seattle)ELL
PDB (SRS)2DOA   
PDB (PDBSum)2DOA   
PDB (IMB)2DOA   
PDB (RSDB)2DOA   
Structural Biology KnowledgeBase2DOA   
SCOP (Structural Classification of Proteins)2DOA   
CATH (Classification of proteins structures)2DOA   
SuperfamilyP55199
Human Protein AtlasENSG00000105656
Peptide AtlasP55199
HPRD02615
IPIIPI00023467   IPI01013640   IPI00746783   
Protein Interaction databases
DIP (DOE-UCLA)P55199
IntAct (EBI)P55199
FunCoupENSG00000105656
BioGRIDELL
STRING (EMBL)ELL
ZODIACELL
Ontologies - Pathways
QuickGOP55199
Ontology : AmiGOin utero embryonic development  protein binding  nucleoplasm  transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  transcription elongation factor complex  negative regulation of phosphatase activity  Cajal body  nuclear speck  phosphatase binding  positive regulation of DNA-templated transcription, elongation  positive regulation of transcription elongation from RNA polymerase II promoter  transcriptionally active chromatin  histone locus body  snRNA transcription from RNA polymerase II promoter  snRNA transcription from RNA polymerase II promoter  snRNA transcription from RNA polymerase III promoter  positive regulation of transcription from RNA polymerase III promoter  
Ontology : EGO-EBIin utero embryonic development  protein binding  nucleoplasm  transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  transcription elongation factor complex  negative regulation of phosphatase activity  Cajal body  nuclear speck  phosphatase binding  positive regulation of DNA-templated transcription, elongation  positive regulation of transcription elongation from RNA polymerase II promoter  transcriptionally active chromatin  histone locus body  snRNA transcription from RNA polymerase II promoter  snRNA transcription from RNA polymerase II promoter  snRNA transcription from RNA polymerase III promoter  positive regulation of transcription from RNA polymerase III promoter  
REACTOMEP55199 [protein]
REACTOME PathwaysR-HSA-75955 [pathway]   
NDEx NetworkELL
Atlas of Cancer Signalling NetworkELL
Wikipedia pathwaysELL
Orthology - Evolution
OrthoDB8178
GeneTree (enSembl)ENSG00000105656
Phylogenetic Trees/Animal Genes : TreeFamELL
HOVERGENP55199
HOGENOMP55199
Homologs : HomoloGeneELL
Homology/Alignments : Family Browser (UCSC)ELL
Gene fusions - Rearrangements
Fusion : MitelmanCDC37/ELL [19p13.2/19p13.11]  [t(19;19)(p13;p13)]  
Fusion : MitelmanELL/CISD3 [19p13.11/17q12]  [t(17;19)(q12;p13)]  
Fusion : MitelmanELL/CLIP2 [19p13.11/7q11.23]  [t(7;19)(q11;p13)]  
Fusion : MitelmanELL/CRLF1 [19p13.11/19p13.11]  [t(19;19)(p13;p13)]  
Fusion : MitelmanELL/MVB12A [19p13.11/19p13.11]  [t(19;19)(p13;p13)]  
Fusion : MitelmanELL/SMIM7 [19p13.11/19p13.11]  [t(19;19)(p13;p13)]  
Fusion : COSMICKMT2A [11q23.3]  -  ELL [19p13.11]  [fusion_1988]  [fusion_1989]  [fusion_1990]  [fusion_1991]  [fusion_1992]  [fusion_1993]  [fusion_1994]  
[fusion_1995]  [fusion_1996]  [fusion_1997]  
Fusion: TCGACDC37 19p13.2 ELL 19p13.11 LUAD
Fusion: TCGAELL 19p13.11 C19orf42 BRCA
Fusion: TCGAELL 19p13.11 CISD3 17q12 KIRC
Fusion: TCGAELL 19p13.11 CRLF1 19p13.11 LUSC
Fusion: TCGAELL 19p13.11 FAM125A LUAD
Fusion: TCGAMLL ELL 19p13.11 LAML
Fusion : TICdbKMT2A [11q23.3]  -  ELL [19p13.11]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELL
dbVarELL
ClinVarELL
1000_GenomesELL 
Exome Variant ServerELL
ExAC (Exome Aggregation Consortium)ELL (select the gene name)
Genetic variants : HAPMAP8178
Genomic Variants (DGV)ELL [DGVbeta]
DECIPHERELL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELL 
Mutations
ICGC Data PortalELL 
TCGA Data PortalELL 
Broad Tumor PortalELL
OASIS PortalELL [ Somatic mutations - Copy number]
Cancer Gene: CensusELL 
Somatic Mutations in Cancer : COSMICELL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ELL
DgiDB (Drug Gene Interaction Database)ELL
DoCM (Curated mutations)ELL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELL (select a term)
intoGenELL
NCG5 (London)ELL
Cancer3DELL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600284   
Orphanet
MedgenELL
Genetic Testing Registry ELL
NextProtP55199 [Medical]
TSGene8178
GENETestsELL
Target ValidationELL
Huge Navigator ELL [HugePedia]
snp3D : Map Gene to Disease8178
BioCentury BCIQELL
ClinGenELL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8178
Chemical/Pharm GKB GenePA134939610
Clinical trialELL
Miscellaneous
canSAR (ICR)ELL (select the gene name)
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELL
EVEXELL
GoPubMedELL
iHOPELL
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 articlesautomatic 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 publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:25:25 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.