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SH3GL1 (extra eleven nineteen leukemia fusion gene)

Identity

Other namesEEN (extra eleven nineteen leukemia fusion gene)
HGNC (Hugo) SH3GL1
LocusID (NCBI) 6455
Location 19p13
Location_base_pair Starts at 4360364 and ends at 4400565 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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 (Hugo)SH3GL1   10830
Entrez_Gene (NCBI)SH3GL1  6455  SH3-domain GRB2-like 1
Cards
AtlasEEN
GeneCards (Weizmann)SH3GL1
Ensembl (Hinxton)ENSG00000141985 [Gene_View]  chr19:4360364-4400565 [Contig_View]  SH3GL1 [Vega]
AceView (NCBI)SH3GL1
Genatlas (Paris)SH3GL1
euGene (Indiana)6455
SOURCE (Stanford)NM_001199943 NM_001199944 NM_003025
Genomic and cartography
GoldenPath (UCSC)SH3GL1  -  19p13   chr19:4360364-4400565 -  19p13.3   [Description]    (hg19-Feb_2009)
EnsemblSH3GL1 - 19p13.3 [CytoView]
Mapping of homologs : NCBISH3GL1 [Mapview]
OMIM601626   601768   
Gene and transcription
Genbank (Entrez)AK097616 AK299166 AK315450 AY364240 BC000089
RefSeq transcript (SRS)NM_001199943 NM_001199944 NM_003025
RefSeq transcript (Entrez)NM_001199943 NM_001199944 NM_003025
RefSeq genomic (SRS)AC_000151 NC_000019 NG_028084 NT_011255 NW_001838477
RefSeq genomic (Entrez)AC_000151 NC_000019 NG_028084 NT_011255 NW_001838477
Consensus coding sequences : CCDS (NCBI)SH3GL1
Cluster EST : UnigeneHs.97616 [ SRS ] Hs.97616 [ NCBI ]
Alternative Splicing : Fast-db (Paris)2619
Alternative Splicing GalleryENSG00000141985
Gene ExpressionSH3GL1 [ NCBI-GEO ]   SH3GL1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99961 (SRS) Q99961 (Uniprot)
With graphics : InterProQ99961
Splice isoforms : SwissVarQ99961(Swissvar)
Domaine pattern : Prosite (SRS)BAR (PS51021)    SH3 (PS50002)   
Domaine pattern : Prosite (Expaxy)BAR (PS51021)    SH3 (PS50002)   
Domains : Interpro (SRS)BAR_dom    p67phox    SH3_domain   
Domains : Interpro (EBI)BAR_dom    p67phox    SH3_domain   
Related proteins : CluSTrQ99961
Domain families : Pfam (SRS)BAR (PF03114)    SH3_1 (PF00018)   
Domain families : Pfam (Sanger)BAR (PF03114)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam03114    pfam00018   
Domain families : Smart (EMBL)BAR (SM00721)  SH3 (SM00326)  
Blocks (Seattle)Q99961
Human Protein AtlasENSG00000141985
HPRD03462
IPIIPI00979499   IPI00644418   IPI00019169   
Protein Interaction databases
DIP (DOE-UCLA)Q99961
IntAct (EBI)Q99961
FunCoupENSG00000141985
REACTOMESH3GL1
BioGRIDSH3GL1
InParanoidQ99961
Interologous Interaction database Q99961
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SH3GL1
SNP (GeneSNP Utah)SH3GL1
SNP : HGBaseSH3GL1
Genetic variants : HAPMAPSH3GL1
Cancer Gene: CensusSH3GL1 
Somatic Mutations in Cancer : COSMICSH3GL1 
CONAN: Copy Number AnalysisSH3GL1 
Mutations and Diseases : HGMDSH3GL1
OMIM601626    601768   
GENETests601626    601768   
Disease Genetic AssociationSH3GL1
Huge Navigator SH3GL1 [HugePedia]  SH3GL1 [HugeCancerGEM]
Genomic VariantsSH3GL1
snp3D : Map Gene to Disease6455
General knowledge
Homologs : HomoloGeneSH3GL1
Homology/Alignments : Family Browser (UCSC)SH3GL1
Phylogenetic Trees/Animal Genes : TreeFamSH3GL1
Chemical/Protein Interactions : CTD6455
Chemical/Pharm GKB GenePA35736
Clinical trialSH3GL1
Cancer Resource (Charite)ENSG00000141985
Ontology : AmiGOprotein binding  cytoplasm  endosome  endocytosis  signal transduction  central nervous system development  lipid binding  membrane  early endosome membrane  
Ontology : EGO-EBIprotein binding  cytoplasm  endosome  endocytosis  signal transduction  central nervous system development  lipid binding  membrane  early endosome membrane  
Other databases
Probes
Probes : ImagenesSH3GL1 Related clones (RZPD - Berlin)
Litterature
PubMed26 Pubmed reference(s) in Entrez
PubGeneSH3GL1
iHOPSH3GL1

Bibliography

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REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written12-1997Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . SH3GL1 (extra eleven nineteen leukemia fusion gene). Atlas Genet Cytogenet Oncol Haematol. December 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/EEN.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/32053/12-1997-EEN.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 14:58:58 CEST 2012
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