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ABI1 (Abl-Interactor 1)

Identity

Other namesE3B1
eps8 SH3 domain binding protein
SSH3BP1
HGNC (Hugo) ABI1
LocusID (NCBI) 10006
Location 10p12.1
Location_base_pair Starts at 27035525 and ends at 27150016 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order centromeric to the AF10 gene
 
  ABI1 (10p11) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

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

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

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias t0817q24q22ID1494 t1119q23p13ID1540 t614p25q32IRF4IGHID1175

External links

Nomenclature
HGNC (Hugo)ABI1   11320
Cards
AtlasABI1ID233
Entrez_Gene (NCBI)ABI1  10006  abl-interactor 1
GeneCards (Weizmann)ABI1
Ensembl (Hinxton)ENSG00000136754 [Gene_View]  chr10:27035525-27150016 [Contig_View]  ABI1 [Vega]
ICGC DataPortalENSG00000136754
cBioPortalABI1
AceView (NCBI)ABI1
Genatlas (Paris)ABI1
WikiGenes10006
SOURCE (Princeton)NM_001012750 NM_001012751 NM_001012752 NM_001178116 NM_001178119 NM_001178120 NM_001178121 NM_001178122 NM_001178123 NM_001178124 NM_001178125 NM_005470
Genomic and cartography
GoldenPath (UCSC)ABI1  -  10p12.1   chr10:27035525-27150016 -  10p12.1   [Description]    (hg19-Feb_2009)
EnsemblABI1 - 10p12.1 [CytoView]
Mapping of homologs : NCBIABI1 [Mapview]
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)AC_000142 NC_000010 NC_018921 NG_030025 NT_008705 NW_001837931 NW_004929370
Consensus coding sequences : CCDS (NCBI)ABI1
Cluster EST : UnigeneHs.508148 [ NCBI ]
CGAP (NCI)Hs.508148
Alternative Splicing : Fast-db (Paris)GSHG0003946
Alternative Splicing GalleryENSG00000136754
Gene ExpressionABI1 [ NCBI-GEO ]     ABI1 [ SEEK ]   ABI1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZP0 (Uniprot)
NextProtQ8IZP0  [Medical]
With graphics : InterProQ8IZP0
Splice isoforms : SwissVarQ8IZP0 (Swissvar)
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)    T_SNARE (PS50192)   
Domains : Interpro (EBI)Abl-interactor_HHR_dom [organisation]   p67phox [organisation]   SH3_domain [organisation]   T_SNARE_dom [organisation]  
Related proteins : CluSTrQ8IZP0
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)Q8IZP0
Human Protein AtlasENSG00000136754 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidQ8IZP0
Interologous Interaction database Q8IZP0
IntegromeDBABI1
STRING (EMBL)ABI1
Ontologies - Pathways
Ontology : AmiGOsomitogenesis  protein binding  intracellular  nucleus  endoplasmic reticulum  cytosol  cytoskeleton  cellular component movement  transmembrane receptor protein tyrosine kinase signaling pathway  cytoskeletal protein binding  actin polymerization or depolymerization  negative regulation of cell proliferation  peptidyl-tyrosine phosphorylation  lamellipodium  cell junction  filopodium  protein tyrosine kinase activator activity  growth cone  megakaryocyte development  Fc-gamma receptor signaling pathway involved in phagocytosis  innate immune response  synapse  lamellipodium morphogenesis  
Ontology : EGO-EBIsomitogenesis  protein binding  intracellular  nucleus  endoplasmic reticulum  cytosol  cytoskeleton  cellular component movement  transmembrane receptor protein tyrosine kinase signaling pathway  cytoskeletal protein binding  actin polymerization or depolymerization  negative regulation of cell proliferation  peptidyl-tyrosine phosphorylation  lamellipodium  cell junction  filopodium  protein tyrosine kinase activator activity  growth cone  megakaryocyte development  Fc-gamma receptor signaling pathway involved in phagocytosis  innate immune response  synapse  lamellipodium morphogenesis  
Protein Interaction DatabaseABI1
Wikipedia pathwaysABI1
Gene fusion - rearrangments
Rearrangement : TICdbKMT2A [11q23.3]  -  ABI1 [17p13.1]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ABI1
snp3D : Map Gene to Disease10006
SNP (GeneSNP Utah)ABI1
SNP : HGBaseABI1
Genetic variants : HAPMAPABI1
Exome VariantABI1
1000_GenomesABI1 
ICGC programENSG00000136754 
Cancer Gene: CensusABI1 
Somatic Mutations in Cancer : COSMICABI1 
CONAN: Copy Number AnalysisABI1 
Mutations and Diseases : HGMDABI1
Genomic VariantsABI1  ABI1 [DGVbeta]
dbVarABI1
ClinVarABI1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM603050   
MedgenABI1
GENETestsABI1
Disease Genetic AssociationABI1
Huge Navigator ABI1 [HugePedia]  ABI1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneABI1
Homology/Alignments : Family Browser (UCSC)ABI1
Phylogenetic Trees/Animal Genes : TreeFamABI1
Chemical/Protein Interactions : CTD10006
Chemical/Pharm GKB GenePA36144
Clinical trialABI1
Cancer Resource (Charite)ENSG00000136754
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed70 Pubmed reference(s) in Entrez
CoreMineABI1
iHOPABI1

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).
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written04-2000Jean-Loup Huret

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/ABI1ID233.html

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indexed on : Mon Jul 21 11:30:25 CEST 2014

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