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ABI1 (Abl-Interactor 1)

Written2000-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other aliasE3B1
eps8 SH3 domain binding protein
SSH3BP1
LocusID (NCBI) 10006
Atlas_Id 233
Location 10p12.1  [Link to chromosome band 10p12]
Location_base_pair Starts at and ends at bp from pter
Local_order centromeric to the AF10 gene
 
  ABI1 (10p11) - 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)
ABI1 (10p12.1) / BIN2 (12q13.13)ABI1 (10p12.1) / CLMN (14q32.13)ABI1 (10p12.1) / IRAK3 (12q14.3)
ABI1 (10p12.1) / KMT2A (11q23.3)ABI1 (10p12.1) / YME1L1 (10p12.1)BMI1 (10p12.2) / ABI1 (10p12.1)
KMT2A (11q23.3) / ABI1 (10p12.1)NDUFS1 (2q33.3) / ABI1 (10p12.1)

DNA/RNA

Transcription different splicings (and different names for the gene)

Protein

Description 387 (ABI1) to 508 (e3B1) amino acids; 43 to 72 kDa; NH2- an homeodomain homologous region and a SH3 domain -COOH
Expression wide, in adults and in the embryo
Localisation cytosol
Function cell growth inhibitor; interacts withENL, another fusion partner of MLL, by binding it through its SH3 domain; the mouse Abi-1 protein is an AB-binding protein that suppresses v-ABL transforming activity

Implicated in

Note
  
Entity t(10;11)(p11.2;q23) acute non lymphoblastic leukemia (AML) --> KMT2A- ABI1
Note only one case to date
Disease M4 AML in an infant
Oncogenesis MLL-ABI1 displays a transcriptional transactivator activity similar to MLL-ENL; they may act in a common oncogenic pathway
  

Bibliography

Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth.
Biesova Z, Piccoli C, Wong WT
Oncogene. 1997 ; 14 (2) : 233-241.
PMID 9010225
 
ENL, the MLL fusion partner in t(11;19), binds to the c-ABL interactor protein 1 (ABI1) that is fused to MLL in t(10;11).
Garcia Cuellar MP, Schreiner S, Birke M, Hamacher M, Slany RK
Blood. 1999 ; 94 (numero Suppl 1).
 
ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL gene in acute myeloid leukemia with t(10;11)(p11.2;q23).
Taki T, Shibuya N, Taniwaki M, Hanada R, Morishita K, Bessho F, Yanagisawa M, Hayashi Y
Blood. 1998 ; 92 (4) : 1125-1130.
PMID 9694699
 
Identification of a candidate human spectrin Src homology 3 domain-binding protein suggests a general mechanism of association of tyrosine kinases with the spectrin-based membrane skeleton.
Ziemnicka-Kotula D, Xu J, Gu H, Potempska A, Kim KS, Jenkins EC, Trenkner E, Kotula L
The Journal of biological chemistry. 1998 ; 273 (22) : 13681-13692.
PMID 9593709
 

Citation

This paper should be referenced as such :
Huret, JL
ABI1 (Abl-Interactor 1)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):55-56.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ABI1ID233.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]
  t(10;11)(p11.2;q23) KMT2A/ABI1
t(10;11)(p12;q23) KMT2A/ABI1
11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
11q23 rearrangements (KMT2A) in leukaemia
Chronic myelogenous leukaemia (CML)
t(10;11)(p11.2;q23) KMT2A/ABI1
t(10;11)(p12;q23) KMT2A/ABI1


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  BMI1/ABI1 (10p12)


External links

Nomenclature
Cards
AtlasABI1ID233.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)10006
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:26:58 CEST 2018

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