| Written | 2000-04 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Alias_names | SSH3BP1 |
| spectrin SH3 domain binding protein 1 | |
| abl-interactor 1 | |
| Alias_symbol (synonym) | E3B1 |
| ABI-1 | |
| Other alias | eps8 SH3 domain binding protein |
| HGNC (Hugo) | ABI1 |
| LocusID (NCBI) | 10006 |
| Atlas_Id | 233 |
| Location | 10p12.1 [Link to chromosome band 10p12] |
| Location_base_pair | Starts at 26746596 and ends at 26861087 bp from pter ( according to hg19-Feb_2009) [Mapping ABI1.png] |
| Local_order | centromeric to the AF10 gene |
 | |
| ABI1 (10p11) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
| Fusion genes (updated 2016) | 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) --> MLL- 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) [ 4 ] |
|
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 |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 16:55:55 CEST 2017 |
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