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EPS15 (epidermal growth factor receptor pathway substrate 15)

Written1998-04Olivier Bernard
Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France

(Note : for Links provided by Atlas : click)

Identity

Other namesAF1p (ALL1 fused gene from chromosome 1p)
EPS15 (EGFR Pathway Substrate 15)
MLLT5 (Myeloid/Lymphoid Leukemia Translocated to, 5)
HGNC (Hugo) EPS15
LocusID (NCBI) 2060
Atlas_Id 11
Location 1p32.3  [Link to chromosome band 1p32]
Location_base_pair Starts at 51819935 and ends at 51887793 bp from pter ( according to hg19-Feb_2009)  [Mapping EPS15.png]
 
  AF1p (1p32) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)		EPS15 (1p32.3) / EPS15 (1p32.3)EPS15 (1p32.3) / KMT2A (11q23.3)EPS15 (1p32.3) / OSBPL9 (1p32.3)
EPS15 (1p32.3) / PATJ (1p31.3)EPS15 (1p32.3) / RASSF3 (12q14.2)FAF1 (1p32.3) / EPS15 (1p32.3)
KMT2A (11q23.3) / EPS15 (1p32.3)UBE2Z (17q21.32) / EPS15 (1p32.3)

DNA/RNA

Description coding sequence: CDS 93..2783
Transcription 4.4 kb mRNA

Protein

Description 896 amino acids; NH2 -- coiled-coil region -- DPF repeat -- COOH; oligomerization properties
Expression wide
Localisation cytoplasmic
Function implicated in endocytocis; probable EGF receptor tyrosine kinase substrate.
Homology PAN1 (yeast); eps15R (human)

Implicated in

Note
Entity t(1;11) (p32;q23)/AML --> MLL - AF1p
Disease AMMOL
Abnormal Protein N-term -- AT hook and DNA methyltransferase from MLL fused to almost all AF1p
  
  

Bibliography

Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
Bernard OA, Berger R
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
PMID 7542910
 
eps15, a novel tyrosine kinase substrate, exhibits transforming activity.
Fazioli F, Minichiello L, Matoskova B, Wong WT, Di Fiore PP
Molecular and cellular biology. 1993 ; 13 (9) : 5814-5828.
PMID 7689153
 
11q23 rearrangements in acute leukemia.
Rubnitz JE, Behm FG, Downing JR
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (1) : 74-82.
PMID 8558942
 
Eps15 is a component of clathrin-coated pits and vesicles and is located at the rim of coated pits.
Tebar F, Sorkina T, Sorkin A, Ericsson M, Kirchhausen T
The Journal of biological chemistry. 1996 ; 271 (46) : 28727-28730.
PMID 8910509
 
Pan1p, yeast eps15, functions as a multivalent adaptor that coordinates protein-protein interactions essential for endocytosis.
Wendland B, Emr SD
The Journal of cell biology. 1998 ; 141 (1) : 71-84.
PMID 9531549
 
Chromosome abnormalities in leukaemia: the 11q23 paradigm.
Young BD, Saha V
Cancer surveys. 1996 ; 28 : 225-245.
PMID 8977038
 

Citation

This paper should be referenced as such :
Bernard, O
EPS15 (epidermal growth factor receptor pathway substrate 15)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):70-71.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AF1pID11.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
t(1;11)(p32;q23) KMT2A/EPS15

External links

Nomenclature
HGNC (Hugo)EPS15   3419
Cards
AtlasAF1pID11
Entrez_Gene (NCBI)EPS15  2060  epidermal growth factor receptor pathway substrate 15
AliasesAF-1P; AF1P; MLLT5
GeneCards (Weizmann)EPS15
Ensembl hg19 (Hinxton)ENSG00000085832 [Gene_View]  chr1:51819935-51887793 [Contig_View]  EPS15 [Vega]
Ensembl hg38 (Hinxton)ENSG00000085832 [Gene_View]  chr1:51819935-51887793 [Contig_View]  EPS15 [Vega]
ICGC DataPortalENSG00000085832
TCGA cBioPortalEPS15
AceView (NCBI)EPS15
Genatlas (Paris)EPS15
WikiGenes2060
SOURCE (Princeton)EPS15
Genomic and cartography
GoldenPath hg19 (UCSC)EPS15  -     chr1:51819935-51887793 -  1p32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPS15  -     1p32   [Description]    (hg38-Dec_2013)
EnsemblEPS15 - 1p32 [CytoView hg19]  EPS15 - 1p32 [CytoView hg38]
Mapping of homologs : NCBIEPS15 [Mapview hg19]  EPS15 [Mapview hg38]
OMIM600051   
Gene and transcription
Genbank (Entrez)AA789139 AF052132 AF331760 AK090936 AK129853
RefSeq transcript (Entrez)NM_001159969 NM_001981
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)EPS15
Cluster EST : UnigeneHs.83722 [ NCBI ]
CGAP (NCI)Hs.83722
Alternative Splicing GalleryENSG00000085832
Gene ExpressionEPS15 [ NCBI-GEO ]   EPS15 [ EBI - ARRAY_EXPRESS ]   EPS15 [ SEEK ]   EPS15 [ MEM ]
Gene Expression Viewer (FireBrowse)EPS15 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2060
GTEX Portal (Tissue expression)EPS15
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42566 (Uniprot)
NextProtP42566  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP42566
Splice isoforms : SwissVarP42566 (Swissvar)
PhosPhoSitePlusP42566
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    EH (PS50031)    UIM (PS50330)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    EH_dom    UIM_dom   
Domain families : Pfam (Sanger)EF-hand_4 (PF12763)   
Domain families : Pfam (NCBI)pfam12763   
Domain families : Smart (EMBL)EFh (SM00054)  EH (SM00027)  UIM (SM00726)  
DMDM Disease mutations2060
Blocks (Seattle)EPS15
PDB (SRS)1C07    1EH2    1F8H    1FF1    2IV9    2JXC    4RH5    4RH9    4RHG    4S0G   
PDB (PDBSum)1C07    1EH2    1F8H    1FF1    2IV9    2JXC    4RH5    4RH9    4RHG    4S0G   
PDB (IMB)1C07    1EH2    1F8H    1FF1    2IV9    2JXC    4RH5    4RH9    4RHG    4S0G   
PDB (RSDB)1C07    1EH2    1F8H    1FF1    2IV9    2JXC    4RH5    4RH9    4RHG    4S0G   
Structural Biology KnowledgeBase1C07    1EH2    1F8H    1FF1    2IV9    2JXC    4RH5    4RH9    4RHG    4S0G   
SCOP (Structural Classification of Proteins)1C07    1EH2    1F8H    1FF1    2IV9    2JXC    4RH5    4RH9    4RHG    4S0G   
CATH (Classification of proteins structures)1C07    1EH2    1F8H    1FF1    2IV9    2JXC    4RH5    4RH9    4RHG    4S0G   
SuperfamilyP42566
Human Protein AtlasENSG00000085832
Peptide AtlasP42566
HPRD08968
IPIIPI00292134   IPI00916208   IPI00385325   IPI00640127   
Protein Interaction databases
DIP (DOE-UCLA)P42566
IntAct (EBI)P42566
FunCoupENSG00000085832
BioGRIDEPS15
STRING (EMBL)EPS15
ZODIACEPS15
Ontologies - Pathways
QuickGOP42566
Ontology : AmiGOcalcium ion binding  protein binding  cytoplasm  cytosol  plasma membrane  coated pit  Golgi to endosome transport  epidermal growth factor receptor signaling pathway  cell proliferation  protein transport  membrane  vesicle organization  aggresome  SH3 domain binding  receptor-mediated endocytosis of virus by host cell  AP-2 adaptor complex  polyubiquitin binding  early endosome membrane  endocytic recycling  negative regulation of epidermal growth factor receptor signaling pathway  identical protein binding  intracellular membrane-bounded organelle  viral entry into host cell  clathrin coat assembly  ciliary membrane  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytoplasm  cytosol  plasma membrane  coated pit  Golgi to endosome transport  epidermal growth factor receptor signaling pathway  cell proliferation  protein transport  membrane  vesicle organization  aggresome  SH3 domain binding  receptor-mediated endocytosis of virus by host cell  AP-2 adaptor complex  polyubiquitin binding  early endosome membrane  endocytic recycling  negative regulation of epidermal growth factor receptor signaling pathway  identical protein binding  intracellular membrane-bounded organelle  viral entry into host cell  clathrin coat assembly  ciliary membrane  
Pathways : BIOCARTAEndocytotic role of NDK, Phosphins and Dynamin [Genes]   
Pathways : KEGGEndocytosis   
REACTOMEP42566 [protein]
REACTOME PathwaysR-HSA-182971 EGFR downregulation [pathway]
NDEx NetworkEPS15
Atlas of Cancer Signalling NetworkEPS15
Wikipedia pathwaysEPS15
Orthology - Evolution
OrthoDB2060
GeneTree (enSembl)ENSG00000085832
Phylogenetic Trees/Animal Genes : TreeFamEPS15
Homologs : HomoloGeneEPS15
Homology/Alignments : Family Browser (UCSC)EPS15
Gene fusions - Rearrangements
Fusion : MitelmanEPS15/INADL [1p32.3/1p31.3]  
Fusion : MitelmanEPS15/OSBPL9 [1p32.3/1p32.3]  [t(1;1)(p32;p32)]  
Fusion : COSMICKMT2A [11q23.3]  -  EPS15 [1p32.3]  [fusion_1998]  [fusion_1999]  [fusion_2002]  [fusion_2003]  [fusion_2004]  [fusion_2007]  [fusion_2008]  
Fusion: TCGAEPS15 1p32.3 INADL 1p31.3 LUAD
Fusion: TCGAEPS15 1p32.3 OSBPL9 1p32.3 HNSC
Fusion : TICdbKMT2A [11q23.3]  -  EPS15 [1p32.3]
Polymorphisms : SNP, variants
NCBI Variation ViewerEPS15 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPS15
dbVarEPS15
ClinVarEPS15
1000_GenomesEPS15 
Exome Variant ServerEPS15
ExAC (Exome Aggregation Consortium)EPS15 (select the gene name)
Genetic variants : HAPMAP2060
Genomic Variants (DGV)EPS15 [DGVbeta]
Mutations
ICGC Data PortalEPS15 
TCGA Data PortalEPS15 
Broad Tumor PortalEPS15
OASIS PortalEPS15 [ Somatic mutations - Copy number]
Cancer Gene: CensusEPS15 
Somatic Mutations in Cancer : COSMICEPS15 
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 EPS15
DgiDB (Drug Gene Interaction Database)EPS15
DoCM (Curated mutations)EPS15 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPS15 (select a term)
intoGenEPS15
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:51819935-51887793  ENSG00000085832
CONAN: Copy Number AnalysisEPS15 
Mutations and Diseases : HGMDEPS15
OMIM600051   
MedgenEPS15
Genetic Testing Registry EPS15
NextProtP42566 [Medical]
TSGene2060
GENETestsEPS15
Huge Navigator EPS15 [HugePedia]
snp3D : Map Gene to Disease2060
BioCentury BCIQEPS15
ClinGenEPS15
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2060
Chemical/Pharm GKB GenePA27838
Clinical trialEPS15
Miscellaneous
canSAR (ICR)EPS15 (select the gene name)
Probes
Litterature
PubMed124 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPS15
EVEXEPS15
GoPubMedEPS15
iHOPEPS15
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 28 15:58:14 CEST 2016
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