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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

Alias (NCBI)E3B1
eps8 SH3 domain binding protein
SSH3BP1
HGNC (Hugo) ABI1
HGNC Alias symbE3B1
ABI-1
HGNC Previous nameSSH3BP1
HGNC Previous namespectrin SH3 domain binding protein 1
 abl-interactor 1
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 GRCh38/hg38-Dec_2013)  [Mapping ABI1.png]
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 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 ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
11q23 rearrangements (KMT2A) in leukaemia
Chronic myelogenous leukaemia (CML)
del(6p) (loss of JARID2 and DTNBP1) in myeloid malignances
t(10;11)(p11.2;q23) KMT2A/ABI1


External links

Nomenclature
HGNC (Hugo)ABI1   11320
Cards
AtlasABI1ID233
Entrez_Gene (NCBI)ABI1    abl interactor 1
AliasesABI-1; ABLBP4; E3B1; NAP1BP; 
SSH3BP; SSH3BP1
GeneCards (Weizmann)ABI1
Ensembl hg19 (Hinxton)ENSG00000136754 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136754 [Gene_View]  ENSG00000136754 [Sequence]  chr10:26746596-26861087 [Contig_View]  ABI1 [Vega]
ICGC DataPortalENSG00000136754
TCGA cBioPortalABI1
AceView (NCBI)ABI1
Genatlas (Paris)ABI1
SOURCE (Princeton)ABI1
Genetics Home Reference (NIH)ABI1
Genomic and cartography
GoldenPath hg38 (UCSC)ABI1  -     chr10:26746596-26861087 -  10p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABI1  -     10p12.1   [Description]    (hg19-Feb_2009)
GoldenPathABI1 - 10p12.1 [CytoView hg19]  ABI1 - 10p12.1 [CytoView hg38]
ImmunoBaseENSG00000136754
genome Data Viewer NCBIABI1 [Mapview hg19]  
OMIM603050   
Gene and transcription
Genbank (Entrez)AB040151 AB209268 AF001628 AF006516 AF260262
RefSeq transcript (Entrez)NM_001012750 NM_001012751 NM_001012752 NM_001178116 NM_001178119 NM_001178120 NM_001178121 NM_001178122 NM_001178123 NM_001178124 NM_001178125 NM_001348029 NM_001348030 NM_001348031 NM_001348032 NM_001348033 NM_001348034 NM_005470
Consensus coding sequences : CCDS (NCBI)ABI1
Alternative Splicing GalleryENSG00000136754
Gene ExpressionABI1 [ NCBI-GEO ]   ABI1 [ EBI - ARRAY_EXPRESS ]   ABI1 [ SEEK ]   ABI1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABI1 [ Firebrowse - Broad ]
GenevisibleExpression of ABI1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10006
GTEX Portal (Tissue expression)ABI1
Human Protein AtlasENSG00000136754-ABI1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ABI1
Human Protein Atlas [tissue]ENSG00000136754-ABI1 [tissue]
HPRD04336
Protein Interaction databases
BioGRIDABI1
STRING (EMBL)ABI1
ZODIACABI1
Ontologies - Pathways
Litterature
PubMed111 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABI1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed Sep 15 23:39:20 CEST 2021

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jlhuret@AtlasGeneticsOncology.org.