Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

EPS15 (epidermal growth factor receptor pathway substrate 15)

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
Location 1p32.3
Location_base_pair Starts at 51819935 and ends at 51887793 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  AF1p (1p32) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

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

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

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131

External links

Nomenclature
HGNC (Hugo)EPS15   3419
Cards
AtlasAF1pID11
Entrez_Gene (NCBI)EPS15  2060  epidermal growth factor receptor pathway substrate 15
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
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 AK090936 AK129853 AK294297
RefSeq transcript (Entrez)NM_001159969 NM_001981
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NT_032977 NW_001838579 NW_004929290
Consensus coding sequences : CCDS (NCBI)EPS15
Cluster EST : UnigeneHs.83722 [ NCBI ]
CGAP (NCI)Hs.83722
Alternative Splicing : Fast-db (Paris)GSHG0002096
Alternative Splicing GalleryENSG00000085832
Gene ExpressionEPS15 [ NCBI-GEO ]     EPS15 [ SEEK ]   EPS15 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42566 (Uniprot)
NextProtP42566  [Medical]
With graphics : InterProP42566
Splice isoforms : SwissVarP42566 (Swissvar)
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    EPS15_homology    Ubiquitin-int_motif   
Related proteins : CluSTrP42566
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)EFh (SM00054)  EH (SM00027)  UIM (SM00726)  
DMDM Disease mutations2060
Blocks (Seattle)P42566
PDB (SRS)1C07    1EH2    1F8H    1FF1    2IV9    2JXC   
PDB (PDBSum)1C07    1EH2    1F8H    1FF1    2IV9    2JXC   
PDB (IMB)1C07    1EH2    1F8H    1FF1    2IV9    2JXC   
PDB (RSDB)1C07    1EH2    1F8H    1FF1    2IV9    2JXC   
Human Protein AtlasENSG00000085832
Peptide AtlasP42566
HPRD08968
IPIIPI00292134   IPI00916208   IPI00385325   IPI00640127   
Protein Interaction databases
DIP (DOE-UCLA)P42566
IntAct (EBI)P42566
FunCoupENSG00000085832
BioGRIDEPS15
IntegromeDBEPS15
STRING (EMBL)EPS15
Ontologies - Pathways
QuickGOP42566
Ontology : AmiGOcalcium ion binding  protein binding  cytoplasm  cytosol  plasma membrane  coated pit  Golgi to endosome transport  endocytosis  epidermal growth factor receptor signaling pathway  cell proliferation  protein transport  membrane  vesicle organization  SH3 domain binding  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  clathrin coat assembly  ciliary membrane  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytoplasm  cytosol  plasma membrane  coated pit  Golgi to endosome transport  endocytosis  epidermal growth factor receptor signaling pathway  cell proliferation  protein transport  membrane  vesicle organization  SH3 domain binding  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  clathrin coat assembly  ciliary membrane  
Pathways : BIOCARTAEndocytotic role of NDK, Phosphins and Dynamin [Genes]   
Pathways : KEGGEndocytosis   
REACTOMEP42566 [protein]
REACTOME PathwaysREACT_116125 Disease [pathway]
REACTOME PathwaysREACT_111102 Signal Transduction [pathway]
Protein Interaction DatabaseEPS15
DoCM (Curated mutations)EPS15
Wikipedia pathwaysEPS15
Gene fusion - rearrangements
Rearrangement : TICdbKMT2A [11q23.3]  -  EPS15 [4p14]
Polymorphisms : SNP, variants
NCBI Variation ViewerEPS15 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPS15
dbVarEPS15
ClinVarEPS15
1000_GenomesEPS15 
Exome Variant ServerEPS15
SNP (GeneSNP Utah)EPS15
SNP : HGBaseEPS15
Genetic variants : HAPMAPEPS15
Genomic VariantsEPS15  EPS15 [DGVbeta]
Mutations
ICGC Data PortalENSG00000085832 
Cancer Gene: CensusEPS15 
Somatic Mutations in Cancer : COSMICEPS15 
CONAN: Copy Number AnalysisEPS15 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:51819935-51887793
Mutations and Diseases : HGMDEPS15
OMIM600051   
MedgenEPS15
NextProtP42566 [Medical]
GENETestsEPS15
Disease Genetic AssociationEPS15
Huge Navigator EPS15 [HugePedia]  EPS15 [HugeCancerGEM]
snp3D : Map Gene to Disease2060
DGIdb (Drug Gene Interaction db)EPS15
General knowledge
Homologs : HomoloGeneEPS15
Homology/Alignments : Family Browser (UCSC)EPS15
Phylogenetic Trees/Animal Genes : TreeFamEPS15
Chemical/Protein Interactions : CTD2060
Chemical/Pharm GKB GenePA27838
Clinical trialEPS15
Cancer Resource (Charite)ENSG00000085832
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed125 Pubmed reference(s) in Entrez
CoreMineEPS15
GoPubMedEPS15
iHOPEPS15

Bibliography

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
 
A novel gene, AF-1p, fused to HRX in t(1;11)(p32;q23), is not related to AF-4, AF-9 nor ENL.
Bernard OA, Mauchauffe M, Mecucci C, Van den Berghe H, Berger R
Oncogene. 1994 ; 9 (4) : 1039-1045.
PMID 8134107
 
Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
Bernard OA, Berger R
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
PMID 7542910
 
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
 
Chromosome abnormalities in leukaemia: the 11q23 paradigm.
Young BD, Saha V
Cancer surveys. 1996 ; 28 : 225-245.
PMID 8977038
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written04-1998Olivier Bernard

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/AF1pID11.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 03:07:17 CET 2014
Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.