EPS15 (epidermal growth factor receptor pathway substrate 15)

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EPS15 (epidermal growth factor receptor pathway substrate 15)

Written	1998-04	Olivier Bernard
		Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)	AF-1P
	MLLT5
Other alias	AF1p (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 51354263 and ends at 51519323 bp from pter ( according to hg19-Feb_2009) [Mapping EPS15.png]


	AF1p (1p32) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

EPS15 (1p32.3) / BRAF (7q34)	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 --> KMT2A - EPS15
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) [ 4 ]

11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
t(1;5)(p32;q31) without TAL1 rearrangement
t(1;11)(p32;q23) KMT2A/EPS15

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]

EPS15/OSBPL9 (1p32)
t(1;7)(p32;q34) EPS15/BRAF

External links

	Nomenclature
HGNC (Hugo)	EPS15 3419
	Cards
Atlas	AF1pID11
Entrez_Gene (NCBI)	EPS15 2060 epidermal growth factor receptor pathway substrate 15
Aliases	AF-1P; AF1P; MLLT5
GeneCards (Weizmann)	EPS15
Ensembl hg19 (Hinxton)	ENSG00000085832 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000085832 [Gene_View] ENSG00000085832 [Sequence] chr1:51354263-51519323 [Contig_View] EPS15 [Vega]
ICGC DataPortal	ENSG00000085832
TCGA cBioPortal	EPS15
AceView (NCBI)	EPS15
Genatlas (Paris)	EPS15
WikiGenes	2060
SOURCE (Princeton)	EPS15
Genetics Home Reference (NIH)	EPS15
	Genomic and cartography
GoldenPath hg38 (UCSC)	EPS15 - chr1:51354263-51519323 - 1p32.3 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	EPS15 - 1p32.3 [Description] (hg19-Feb_2009)
Ensembl	EPS15 - 1p32.3 [CytoView hg19] EPS15 - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBI	EPS15 [Mapview hg19] EPS15 [Mapview hg38]
OMIM	600051
	Gene and transcription
Genbank (Entrez)	AA789139 AF052132 AF331760 AK090936 AK129853
RefSeq transcript (Entrez)	NM_001159969 NM_001981
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	EPS15
Cluster EST : Unigene	Hs.83722 [ NCBI ]
CGAP (NCI)	Hs.83722
Alternative Splicing Gallery	ENSG00000085832
Gene Expression	EPS15 [ 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]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	2060
GTEX Portal (Tissue expression)	EPS15
Human Protein Atlas	ENSG00000085832-EPS15 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P42566 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P42566 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P42566
Splice isoforms : SwissVar	P42566
PhosPhoSitePlus	P42566
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)
Conserved Domain (NCBI)	EPS15
DMDM Disease mutations	2060
Blocks (Seattle)	EPS15
PDB (SRS)	1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
PDB (PDBSum)	1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
PDB (IMB)	1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
PDB (RSDB)	1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
Structural Biology KnowledgeBase	1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
SCOP (Structural Classification of Proteins)	1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
CATH (Classification of proteins structures)	1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
Superfamily	P42566
Human Protein Atlas [tissue]	ENSG00000085832-EPS15 [tissue]
Peptide Atlas	P42566
HPRD	08968
IPI	IPI00292134 IPI00916208 IPI00385325 IPI00640127
	Protein Interaction databases
DIP (DOE-UCLA)	P42566
IntAct (EBI)	P42566
FunCoup	ENSG00000085832
BioGRID	EPS15
STRING (EMBL)	EPS15
ZODIAC	EPS15
	Ontologies - Pathways
QuickGO	P42566
Ontology : AmiGO	positive regulation of receptor recycling calcium ion binding protein binding cytosol cytosol plasma membrane clathrin-coated pit Golgi to endosome transport epidermal growth factor receptor signaling pathway cell proliferation basal plasma membrane protein transport membrane vesicle organization aggresome apical plasma membrane SH3 domain binding receptor-mediated endocytosis of virus by host cell AP-2 adaptor complex polyubiquitin modification-dependent protein binding early endosome membrane endocytic recycling negative regulation of epidermal growth factor receptor signaling pathway regulation of cell proliferation identical protein binding intracellular membrane-bounded organelle cadherin binding viral entry into host cell clathrin coat assembly ciliary membrane membrane organization
Ontology : EGO-EBI	positive regulation of receptor recycling calcium ion binding protein binding cytosol cytosol plasma membrane clathrin-coated pit Golgi to endosome transport epidermal growth factor receptor signaling pathway cell proliferation basal plasma membrane protein transport membrane vesicle organization aggresome apical plasma membrane SH3 domain binding receptor-mediated endocytosis of virus by host cell AP-2 adaptor complex polyubiquitin modification-dependent protein binding early endosome membrane endocytic recycling negative regulation of epidermal growth factor receptor signaling pathway regulation of cell proliferation identical protein binding intracellular membrane-bounded organelle cadherin binding viral entry into host cell clathrin coat assembly ciliary membrane membrane organization
Pathways : KEGG	Endocytosis
REACTOME	P42566 [protein]
REACTOME Pathways	R-HSA-8875360 [pathway]
NDEx Network	EPS15
Atlas of Cancer Signalling Network	EPS15
Wikipedia pathways	EPS15
	Orthology - Evolution
OrthoDB	2060
GeneTree (enSembl)	ENSG00000085832
Phylogenetic Trees/Animal Genes : TreeFam	EPS15
HOVERGEN	P42566
HOGENOM	P42566
Homologs : HomoloGene	EPS15
Homology/Alignments : Family Browser (UCSC)	EPS15
	Gene fusions - Rearrangements
Fusion : Mitelman	EPS15/INADL [1p32.3/1p31.3]
Fusion : Mitelman	EPS15/OSBPL9 [1p32.3/1p32.3] [t(1;1)(p32;p32)]
Fusion : COSMIC	EPS15 [KMT2A] - 2000 [2001] [fusion_2005] [fusion_2006]
Fusion : COSMIC	KMT2A [EPS15] - 1998 [1999] [fusion_2002] [fusion_2003] [fusion_2004] [fusion_2007] [fusion_2008]
Fusion Portal	EPS15 1p32.3 INADL 1p31.3 LUAD
Fusion Portal	EPS15 1p32.3 OSBPL9 1p32.3 HNSC
Fusion : TICdb	KMT2A [11q23.3] - EPS15 [1p32.3]
Fusion : Quiver	EPS15
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	EPS15 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	EPS15
dbVar	EPS15
ClinVar	EPS15
1000_Genomes	EPS15
Exome Variant Server	EPS15
ExAC (Exome Aggregation Consortium)	ENSG00000085832
GNOMAD Browser	ENSG00000085832
Varsome Browser	EPS15
Genetic variants : HAPMAP	2060
Genomic Variants (DGV)	EPS15 [DGVbeta]
DECIPHER	EPS15 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	EPS15
	Mutations
ICGC Data Portal	EPS15
TCGA Data Portal	EPS15
Broad Tumor Portal	EPS15
OASIS Portal	EPS15 [ Somatic mutations - Copy number]
Cancer Gene: Census	EPS15
Somatic Mutations in Cancer : COSMIC	EPS15 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	EPS15
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
BioMuta	search 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)
intoGen	EPS15
NCG5 (London)	EPS15
Cancer3D	EPS15(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	600051
Orphanet
DisGeNET	EPS15
Medgen	EPS15
Genetic Testing Registry	EPS15
NextProt	P42566 [Medical]
TSGene	2060
GENETests	EPS15
Target Validation	EPS15
Huge Navigator	EPS15 [HugePedia]
snp3D : Map Gene to Disease	2060
BioCentury BCIQ	EPS15
ClinGen	EPS15
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	2060
Chemical/Pharm GKB Gene	PA27838
Clinical trial	EPS15
	Miscellaneous
canSAR (ICR)	EPS15 (select the gene name)
	Probes
	Litterature
PubMed	140 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	EPS15
EVEX	EPS15
GoPubMed	EPS15
iHOP	EPS15

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

Search in all EBI NCBI

indexed on : Fri Oct 12 17:49:34 CEST 2018

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