EEN (extra eleven nineteen leukemia fusion gene)

Identity

HGNC	SH3GL1
Location	19p13

DNA/RNA

Transcription

multiple transcript sizes, from 1 kb to the major form of 2.6 kb

Protein

Description	368 amino acids; 46 kDa (major product); contains a central alpha-helical region and a SH3 (SRC homology 3) domain in C-term
Expression	wide, especially in the pancreas
Homology	GRB2

Implicated in

Entity	t(11;19)(q23;p13)/ANLL --> MLL-EEN
Disease	yet unknown (only one case)
Hybrid/Mutated Gene	5' MLL- 3' EEN; breakpoint at exon 6 of MLL
Abnormal Protein	includes the N-term of MLL (with the AT hook and DNA binding motifs) and the major functional domain of EEN

External links

	Nomenclature
HGNC	SH3GL1   10830
Entrez_Gene	SH3GL1  6455  SH3-domain GRB2-like 1
	Cards
Atlas	EEN
GeneCards	SH3GL1
Ensembl	SH3GL1 [Search_View]   ENSG00000141985 [Gene_View]
Genatlas	SH3GL1
GeneLynx	SH3GL1
eGenome	SH3GL1
euGene	6455
	Genomic and cartography
GoldenPath	SH3GL1  -  19p13   chr19:4311367-4351471 -  19p13.3   [Description]    (hg18-Mar_2006)
Ensembl	SH3GL1 - 19p13.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SH3GL1
	Gene and transcription
Genbank	AK097616 [ ENTREZ ]
Genbank	AK315450 [ ENTREZ ]
Genbank	AY364240 [ ENTREZ ]
Genbank	BC000089 [ ENTREZ ]
Genbank	BC001094 [ ENTREZ ]
RefSeq	NM_003025 [ SRS ]    NM_003025 [ ENTREZ ]
RefSeq	AC_000062 [ SRS ]    AC_000062 [ ENTREZ ]
RefSeq	AC_000151 [ SRS ]    AC_000151 [ ENTREZ ]
RefSeq	NC_000019 [ SRS ]    NC_000019 [ ENTREZ ]
RefSeq	NT_011255 [ SRS ]    NT_011255 [ ENTREZ ]
RefSeq	NW_001838477 [ SRS ]    NW_001838477 [ ENTREZ ]
RefSeq	NW_927173 [ SRS ]    NW_927173 [ ENTREZ ]
AceView	SH3GL1 AceView - NCBI
Unigene	Hs.97616 [ SRS ]    Hs.97616 [ NCBI ]     HS97616 [ spliceNest ]
Fast-db	2619 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q6FGM0 [ SRS]    Q6FGM0 [ EXPASY ]     Q6FGM0 [ INTERPRO ]     Q6FGM0 [ UNIPROT ]
Prosite	PS51021 BAR [ SRS ]    PS51021 BAR [ Expasy ]
Prosite	PS50002 SH3 [ SRS ]    PS50002 SH3 [ Expasy ]
Interpro	IPR004148 BAR [ SRS ]    IPR004148 BAR [ EBI ]
Interpro	IPR000108 Neu_cyt_fact_2 [ SRS ]    IPR000108 Neu_cyt_fact_2 [ EBI ]
Interpro	IPR001452 SH3 [ SRS ]    IPR001452 SH3 [ EBI ]
Interpro	IPR013315 Spectrin_alpha [ SRS ]    IPR013315 Spectrin_alpha [ EBI ]
CluSTr	Q6FGM0
Pfam	PF03114 BAR [ SRS ]    PF03114 BAR [ Sanger ]    pfam03114 [ NCBI-CDD ]
Pfam	PF00018 SH3_1 [ SRS ]    PF00018 SH3_1 [ Sanger ]    pfam00018 [ NCBI-CDD ]
Smart	SM00721 BAR [EMBL]
Smart	SM00326 SH3 [EMBL]
Prodom	PD000066 SH3[INRA-Toulouse]
Prodom	Q6FGM0 Q6FGM0_HUMAN [ Domain structure ]   Q6FGM0 Q6FGM0_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	Q6FGM0
HPRD	03462
	Protein Interaction databases
DIP	Q6FGM0
IntAct	Q6FGM0
	Polymorphism : SNP, mutations, diseases
OMIM	601626;601768    [ map ]
GENECLINICS	601626;601768
SNP	SH3GL1 [dbSNP-NCBI]
SNP	NM_003025 [SNP-NCI]
SNP	SH3GL1 [GeneSNPs - Utah]  SH3GL1] [HGBASE - SRS]
HAPMAP	SH3GL1 [HAPMAP]
COSMIC	SH3GL1 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	SH3GL1 [Translocation breakpoints In Cancer]
HGMD	SH3GL1
	General knowledge
Family Browser	SH3GL1 [UCSC Family Browser]
SOURCE	NM_003025
SMD	Hs.97616
SAGE	Hs.97616
GO	protein binding [Amigo]  protein binding
GO	cytoplasm [Amigo]  cytoplasm
GO	endosome [Amigo]  endosome
GO	endocytosis [Amigo]  endocytosis
GO	signal transduction [Amigo]  signal transduction
GO	central nervous system development [Amigo]  central nervous system development
GO	lipid binding [Amigo]  lipid binding
GO	membrane [Amigo]  membrane
GO	early endosome membrane [Amigo]  early endosome membrane
PubGene	SH3GL1
TreeFam	SH3GL1
CTD	6455 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SH3GL1 Related clones (RZPD - Berlin)
	PubMed
PubMed	19 Pubmed reference(s) in LocusLink

Bibliography

-

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	12-1997	Jean-Loup Huret

Citation

This paper should be referenced as such :

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:13:27 2008