Atlas of Genetics and Cytogenetics in Oncology and Haematology


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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 EPS15
Location 1p32
 
  AF1p (1p32) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

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
  
  

External links

Nomenclature
HGNCEPS15   3419
Entrez_GeneEPS15  2060  epidermal growth factor receptor pathway substrate 15
Cards
AtlasAF1pID11
GeneCardsEPS15
EnsemblEPS15 [Search_View]   ENSG00000085832 [Gene_View]
GenatlasEPS15
GeneLynxEPS15
eGenomeEPS15
euGene2060
Genomic and cartography
GoldenPathEPS15  -  1p32   chr1:51592523-51757583 -  1p32   [Description]    (hg18-Mar_2006)
EnsemblEPS15 - 1p32 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneEPS15
Gene and transcription
GenbankAF052132 [ ENTREZ ]
GenbankAK090936 [ ENTREZ ]
GenbankAK129853 [ ENTREZ ]
GenbankAK308128 [ ENTREZ ]
GenbankAK313396 [ ENTREZ ]
RefSeqNM_001981 [ SRS ]    NM_001981 [ ENTREZ ]
RefSeqAC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeqAC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeqNC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeqNT_032977 [ SRS ]    NT_032977 [ ENTREZ ]
RefSeqNW_001838579 [ SRS ]    NW_001838579 [ ENTREZ ]
RefSeqNW_921351 [ SRS ]    NW_921351 [ ENTREZ ]
AceViewEPS15 AceView - NCBI
UnigeneHs.83722 [ SRS ]    Hs.83722 [ NCBI ]     HS83722 [ spliceNest ]
Fast-db15994 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP42566 [ SRS]    P42566 [ EXPASY ]     P42566 [ INTERPRO ]     P42566 [ UNIPROT ]
PrositePS00018 EF_HAND_1 [ SRS ]    PS00018 EF_HAND_1 [ Expasy ]
PrositePS50222 EF_HAND_2 [ SRS ]    PS50222 EF_HAND_2 [ Expasy ]
PrositePS50031 EH [ SRS ]    PS50031 EH [ Expasy ]
PrositePS50330 UIM [ SRS ]    PS50330 UIM [ Expasy ]
InterproIPR011992 EF-Hand_type [ SRS ]    IPR011992 EF-Hand_type [ EBI ]
InterproIPR002048 EF_hand_Ca_bd [ SRS ]    IPR002048 EF_hand_Ca_bd [ EBI ]
InterproIPR000261 EPS15_homology [ SRS ]    IPR000261 EPS15_homology [ EBI ]
InterproIPR003903 UIM [ SRS ]    IPR003903 UIM [ EBI ]
CluSTrP42566
PfamPF00036 efhand [ SRS ]    PF00036 efhand [ Sanger ]    pfam00036 [ NCBI-CDD ]
SmartSM00054 EFh [EMBL]
SmartSM00027 EH [EMBL]
SmartSM00726 UIM [EMBL]
BlocksP42566
PDB1C07 [ SRS ]    1C07 [ PdbSum ],   1C07 [ IMB ]   1C07 [ RSDB ]
PDB1EH2 [ SRS ]    1EH2 [ PdbSum ],   1EH2 [ IMB ]   1EH2 [ RSDB ]
PDB1F8H [ SRS ]    1F8H [ PdbSum ],   1F8H [ IMB ]   1F8H [ RSDB ]
PDB1FF1 [ SRS ]    1FF1 [ PdbSum ],   1FF1 [ IMB ]   1FF1 [ RSDB ]
PDB2IV9 [ SRS ]    2IV9 [ PdbSum ],   2IV9 [ IMB ]   2IV9 [ RSDB ]
PDB2JXC [ SRS ]    2JXC [ PdbSum ],   2JXC [ IMB ]   2JXC [ RSDB ]
HPRD08968
Protein Interaction databases
DIPP42566
IntActP42566
Polymorphism : SNP, mutations, diseases
OMIM600051    [ map ]   
GENECLINICS600051
SNPEPS15 [dbSNP-NCBI]  
SNPNM_001981 [SNP-NCI]  
SNPEPS15 [GeneSNPs - Utah]  EPS15] [HGBASE - SRS]
HAPMAPEPS15 [HAPMAP]  
COSMICEPS15 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbEPS15 [Translocation breakpoints In Cancer]  
HGMDEPS15
General knowledge
Family BrowserEPS15 [UCSC Family Browser]
SOURCENM_001981
SMDHs.83722
SAGEHs.83722
GOcalcium ion binding [Amigo]  calcium ion binding
GOprotein binding [Amigo]  protein binding
GOcytoplasm [Amigo]  cytoplasm
GOcytosol [Amigo]  cytosol
GOplasma membrane [Amigo]  plasma membrane
GOcoated pit [Amigo]  coated pit
GOepidermal growth factor receptor signaling pathway [Amigo]  epidermal growth factor receptor signaling pathway
GOcell proliferation [Amigo]  cell proliferation
GOvesicle organization and biogenesis [Amigo]  vesicle organization and biogenesis
BIOCARTAEndocytotic role of NDK, Phosphins and Dynamin    [Genes]
PubGeneEPS15
TreeFamEPS15
CTD2060 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
ProbeEPS15 Related clones (RZPD - Berlin)
PubMed
PubMed55 Pubmed reference(s) in LocusLink

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

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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. April 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/AF1pID11.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:11:48 2008


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