ELL (eleven nineteen lysin rich leukemia gene)

Identity

Other names	MEN (myeloid eleven nineteen translocation: <-- WARNING: unrelated to MEN1 and MEN2); ELL-PEN
HGNC	ELL
Location	19p13.1
Location_base_pair	Starts at 18414473 and ends at 18493918 bp from pter ( according to hg18-Mar_2006).
Local_order	proximal from LYL1 in 19p13.2-p13.1; ENL and E2A are more distal in 19p13.3

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

Entity	t(11.19)(q23;p13.1) /ANLL --> 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.

External links

	Nomenclature
HGNC	ELL   23114
Entrez_Gene	ELL  8178  elongation factor RNA polymerase II
	Cards
Atlas	ELL
GeneCards	ELL
Ensembl	ELL [Search_View]   ENSG00000105656 [Gene_View]  ELL [Vega]
Genatlas	ELL
GeneLynx	ELL
eGenome	ELL
euGene	8178
	Genomic and cartography
GoldenPath	ELL  -  19p13.1   chr19:18414473-18493918 -  19p13.1   [Description]    (hg18-Mar_2006)
Ensembl	ELL - 19p13.1 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ELL
	Gene and transcription
Genbank	AB208794 [ ENTREZ ]
Genbank	AF157562 [ ENTREZ ]
Genbank	AK225481 [ ENTREZ ]
Genbank	AK293105 [ ENTREZ ]
Genbank	AK309878 [ ENTREZ ]
RefSeq	NM_006532 [ SRS ]    NM_006532 [ ENTREZ ]
RefSeq	AC_000062 [ SRS ]    AC_000062 [ ENTREZ ]
RefSeq	AC_000151 [ SRS ]    AC_000151 [ ENTREZ ]
RefSeq	NC_000019 [ SRS ]    NC_000019 [ ENTREZ ]
RefSeq	NT_011295 [ SRS ]    NT_011295 [ ENTREZ ]
RefSeq	NW_001838484 [ SRS ]    NW_001838484 [ ENTREZ ]
RefSeq	NW_927195 [ SRS ]    NW_927195 [ ENTREZ ]
CCDS	ELL CCDS - NCBI
AceView	ELL AceView - NCBI
Unigene	Hs.515260 [ SRS ]    Hs.515260 [ NCBI ]     HS515260 [ spliceNest ]
Fast-db	9127 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P55199 [ SRS]    P55199 [ EXPASY ]     P55199 [ INTERPRO ]     P55199 [ UNIPROT ] P55199 [ VarSplice ]
Interpro	IPR010844 Occludin_ELL [ SRS ]    IPR010844 Occludin_ELL [ EBI ]
CluSTr	P55199
Pfam	PF07303 Occludin_ELL [ SRS ]    PF07303 Occludin_ELL [ Sanger ]    pfam07303 [ NCBI-CDD ]
Blocks	P55199
PDB	2DOA [ SRS ]    2DOA [ PdbSum ],   2DOA [ IMB ]   2DOA [ RSDB ]
HPRD	02615
	Protein Interaction databases
DIP	P55199
IntAct	P55199
	Polymorphism : SNP, mutations, diseases
OMIM	600284    [ map ]
GENECLINICS	600284
SNP	ELL [dbSNP-NCBI]
SNP	NM_006532 [SNP-NCI]
SNP	ELL [GeneSNPs - Utah]  ELL] [HGBASE - SRS]
HAPMAP	ELL [HAPMAP]
COSMIC	ELL [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	ELL [Translocation breakpoints In Cancer]
HGMD	ELL
Genetic Association	ELL
CDC HuGE	ELL
	General knowledge
Family Browser	ELL [UCSC Family Browser]
SOURCE	NM_006532
SMD	Hs.515260
SAGE	Hs.515260
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	nucleoplasm [Amigo]  nucleoplasm
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	RNA elongation from RNA polymerase II promoter [Amigo]  RNA elongation from RNA polymerase II promoter
GO	positive transcription elongation factor activity [Amigo]  positive transcription elongation factor activity
GO	nuclear speck [Amigo]  nuclear speck
PubGene	ELL
TreeFam	ELL
CTD	8178 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	ELL Related clones (RZPD - Berlin)
	PubMed
PubMed	25 Pubmed reference(s) in Entrez

Bibliography

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

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

An RNA polymerase II elongation factor encoded by the human ELL gene.

Shilatifard A, Lane WS, Jackson KW, Conaway RC, Conaway JW

Science (New York, N.Y.). 1996 ; 271 (5257) : 1873-1876.

PMID 8596958

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

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

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

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

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

MEN1%20and%20MEN2);%20ELL-PEN%5BTI%5D%20)%20AND%20REVIEW%5BPT%5D%20AND%20ENGLISH%5BLA%5D&field=titl&dispmax=50>REVIEW articles	automatic search in PubMed
MEN1%20and%20MEN2);%20ELL-PEN%5BTI%5D%20)%20AND%20(2006%5BDP%5D%20OR%202007%20OR%202008%5BDP%5D)&field=titl&dispmax=50>Last year publications	automatic search in PubMed

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Contributor(s)

Written	12-1997	Jean-Loup Huret
Updated	04-2003	Jay L. Hess

Citation

This paper should be referenced as such :

Huret JL . ELL (eleven nineteen lysin rich leukemia gene). Atlas Genet Cytogenet Oncol Haematol. December 1997 . URL : http://AtlasGeneticsOncology.org/Genes/ELL.html

Hess JL . ELL (eleven nineteen lysin rich leukemia gene). Atlas Genet Cytogenet Oncol Haematol. April 2003 . URL : http://AtlasGeneticsOncology.org/Genes/ELL.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sun Nov 9 19:40:03 2008