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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 namesE3B1
eps8 SH3 domain binding protein
SSH3BP1
HGNC (Hugo) ABI1
LocusID (NCBI) 10006
Atlas_Id 233
Location 10p12.1  [Link to chromosome band 10p12]
Location_base_pair Starts at 27035525 and ends at 27150016 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
 
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
 
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).
 

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

Nomenclature
HGNC (Hugo)ABI1   11320
Cards
AtlasABI1ID233
Entrez_Gene (NCBI)ABI1  10006  abl interactor 1
AliasesABI-1; ABLBP4; E3B1; NAP1BP; 
SSH3BP; SSH3BP1
GeneCards (Weizmann)ABI1
Ensembl hg19 (Hinxton)ENSG00000136754 [Gene_View]  chr10:27035525-27150016 [Contig_View]  ABI1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136754 [Gene_View]  chr10:27035525-27150016 [Contig_View]  ABI1 [Vega]
ICGC DataPortalENSG00000136754
TCGA cBioPortalABI1
AceView (NCBI)ABI1
Genatlas (Paris)ABI1
WikiGenes10006
SOURCE (Princeton)ABI1
Genomic and cartography
GoldenPath hg19 (UCSC)ABI1  -     chr10:27035525-27150016 -  10p12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABI1  -     10p12.1   [Description]    (hg38-Dec_2013)
EnsemblABI1 - 10p12.1 [CytoView hg19]  ABI1 - 10p12.1 [CytoView hg38]
Mapping of homologs : NCBIABI1 [Mapview hg19]  ABI1 [Mapview hg38]
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_005470
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_030025 NT_008705 NW_004929370
Consensus coding sequences : CCDS (NCBI)ABI1
Cluster EST : UnigeneHs.508148 [ NCBI ]
CGAP (NCI)Hs.508148
Alternative Splicing GalleryENSG00000136754
Gene ExpressionABI1 [ NCBI-GEO ]   ABI1 [ EBI - ARRAY_EXPRESS ]   ABI1 [ SEEK ]   ABI1 [ MEM ]
Gene Expression Viewer (FireBrowse)ABI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10006
GTEX Portal (Tissue expression)ABI1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZP0 (Uniprot)
NextProtQ8IZP0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZP0
Splice isoforms : SwissVarQ8IZP0 (Swissvar)
PhosPhoSitePlusQ8IZP0
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)    T_SNARE (PS50192)   
Domains : Interpro (EBI)Abl-interactor_HHR_dom    SH3_domain    T_SNARE_dom   
Domain families : Pfam (Sanger)Abi_HHR (PF07815)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam07815    pfam00018   
Domain families : Smart (EMBL)SH3 (SM00326)  
DMDM Disease mutations10006
Blocks (Seattle)ABI1
SuperfamilyQ8IZP0
Human Protein AtlasENSG00000136754
Peptide AtlasQ8IZP0
HPRD04336
IPIIPI00431025   IPI00431026   IPI00431027   IPI00431029   IPI00431030   IPI00431031   IPI00431033   IPI00827857   IPI00480028   IPI00935670   IPI00431032   IPI00431034   IPI00902865   IPI00978195   IPI00909287   IPI00647003   
Protein Interaction databases
DIP (DOE-UCLA)Q8IZP0
IntAct (EBI)Q8IZP0
FunCoupENSG00000136754
BioGRIDABI1
STRING (EMBL)ABI1
ZODIACABI1
Ontologies - Pathways
QuickGOQ8IZP0
Ontology : AmiGOsomitogenesis  protein binding  intracellular  nucleus  endoplasmic reticulum  cytosol  cytoskeleton  movement of cell or subcellular component  transmembrane receptor protein tyrosine kinase signaling pathway  cytoskeletal protein binding  actin polymerization or depolymerization  negative regulation of cell proliferation  postsynaptic density  viral process  peptidyl-tyrosine phosphorylation  lamellipodium  cell junction  filopodium  protein tyrosine kinase activator activity  growth cone  SCAR complex  protein complex binding  megakaryocyte development  Fc-gamma receptor signaling pathway involved in phagocytosis  postsynaptic membrane  vascular endothelial growth factor receptor signaling pathway  positive regulation of protein tyrosine kinase activity  extracellular exosome  lamellipodium morphogenesis  
Ontology : EGO-EBIsomitogenesis  protein binding  intracellular  nucleus  endoplasmic reticulum  cytosol  cytoskeleton  movement of cell or subcellular component  transmembrane receptor protein tyrosine kinase signaling pathway  cytoskeletal protein binding  actin polymerization or depolymerization  negative regulation of cell proliferation  postsynaptic density  viral process  peptidyl-tyrosine phosphorylation  lamellipodium  cell junction  filopodium  protein tyrosine kinase activator activity  growth cone  SCAR complex  protein complex binding  megakaryocyte development  Fc-gamma receptor signaling pathway involved in phagocytosis  postsynaptic membrane  vascular endothelial growth factor receptor signaling pathway  positive regulation of protein tyrosine kinase activity  extracellular exosome  lamellipodium morphogenesis  
REACTOMEQ8IZP0 [protein]
REACTOME PathwaysR-HSA-5663213 RHO GTPases Activate WASPs and WAVEs [pathway]
REACTOME PathwaysR-HSA-4420097 VEGFA-VEGFR2 Pathway [pathway]
REACTOME PathwaysR-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkABI1
Wikipedia pathwaysABI1
Orthology - Evolution
OrthoDB10006
GeneTree (enSembl)ENSG00000136754
Phylogenetic Trees/Animal Genes : TreeFamABI1
Homologs : HomoloGeneABI1
Homology/Alignments : Family Browser (UCSC)ABI1
Gene fusions - Rearrangements
Fusion : COSMICKMT2A [11q23.3]  -  ABI1 [10p12.1]  [fusion_1864]  [fusion_1865]  [fusion_1866]  [fusion_1867]  
Fusion : TICdbKMT2A [11q23.3]  -  ABI1 [10p12.1]
Polymorphisms : SNP, variants
NCBI Variation ViewerABI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABI1
dbVarABI1
ClinVarABI1
1000_GenomesABI1 
Exome Variant ServerABI1
ExAC (Exome Aggregation Consortium)ABI1 (select the gene name)
Genetic variants : HAPMAP10006
Genomic Variants (DGV)ABI1 [DGVbeta]
Mutations
ICGC Data PortalABI1 
TCGA Data PortalABI1 
Broad Tumor PortalABI1
OASIS PortalABI1 [ Somatic mutations - Copy number]
Cancer Gene: CensusABI1 
Somatic Mutations in Cancer : COSMICABI1 
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
BioMutasearch ABI1
DgiDB (Drug Gene Interaction Database)ABI1
DoCM (Curated mutations)ABI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABI1 (select a term)
intoGenABI1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:27035525-27150016  ENSG00000136754
CONAN: Copy Number AnalysisABI1 
Mutations and Diseases : HGMDABI1
OMIM603050   
MedgenABI1
Genetic Testing Registry ABI1
NextProtQ8IZP0 [Medical]
TSGene10006
GENETestsABI1
Huge Navigator ABI1 [HugePedia]
snp3D : Map Gene to Disease10006
BioCentury BCIQABI1
ClinGenABI1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10006
Chemical/Pharm GKB GenePA36144
Clinical trialABI1
Miscellaneous
canSAR (ICR)ABI1 (select the gene name)
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABI1
EVEXABI1
GoPubMedABI1
iHOPABI1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 11 13:04:07 CEST 2016

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jlhuret@AtlasGeneticsOncology.org.