ABI1 (Abl-Interactor 1)

2000-04-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
10p12.1
IMAGE
Atlas Image
LEGEND
ABI1 (10p11) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
ABI-1,ABLBP4,E3B1,NAP1BP,SSH3BP,SSH3BP1
FUSION GENES

DNA/RNA

Transcription

different splicings (and different names for the gene)

Proteins

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 name
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

Pubmed IDLast YearTitleAuthors
90102251997Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth.Biesova Z et al
96946991998ABI-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 et al
95937091998Identification 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 et al

Other Information

Locus ID:

NCBI: 10006
MIM: 603050
HGNC: 11320
Ensembl: ENSG00000136754

Variants:

dbSNP: 10006
ClinVar: 10006
TCGA: ENSG00000136754
COSMIC: ABI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136754ENST00000346832Q8IZP0
ENSG00000136754ENST00000359188Q8IZP0
ENSG00000136754ENST00000376137Q8IZP0
ENSG00000136754ENST00000376137B6VEX3
ENSG00000136754ENST00000376138Q8IZP0
ENSG00000136754ENST00000376139Q8IZP0
ENSG00000136754ENST00000376140Q8IZP0
ENSG00000136754ENST00000376142Q8IZP0
ENSG00000136754ENST00000376160A0A0A0MRT6
ENSG00000136754ENST00000376166Q8IZP0
ENSG00000136754ENST00000376170Q8IZP0
ENSG00000136754ENST00000490841Q8IZP0
ENSG00000136754ENST00000536334B6VEX4

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate WASPs and WAVEsREACTOMER-HSA-5663213

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162372878dasatinibChemicalLabelAnnotationassociated
PA165980594ponatinibChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
150481232004Abi1 is essential for the formation and activation of a WAVE2 signalling complex.142
156571362005Abelson-interactor-1 promotes WAVE2 membrane translocation and Abelson-mediated tyrosine phosphorylation required for WAVE2 activation.80
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
191582782009Regulation of cell-cell adhesion by Abi/Diaphanous complexes.49
126728212003Abl interactor 1 promotes tyrosine 296 phosphorylation of mammalian enabled (Mena) by c-Abl kinase.41
211189702010Integrity of SOS1/EPS8/ABI1 tri-complex determines ovarian cancer metastasis.40
168994652016KLRG1 and PD-1 expression are increased on T-cells following tuberculosis-treatment and identify cells with different proliferative capacities in BCG-vaccinated adults.39
175019822007Rac interacts with Abi-1 and WAVE2 to promote an Arp2/3-dependent actin recruitment during chlamydial invasion.33
157698442005WASP-related proteins, Abi1 and Ena/VASP are required for Listeria invasion induced by the Met receptor.31
237402462013Role of the adapter protein Abi1 in actin-associated signaling and smooth muscle contraction.28

Citation

Jean-Loup Huret

ABI1 (Abl-Interactor 1)

Atlas Genet Cytogenet Oncol Haematol. 2000-04-01

Online version: http://atlasgeneticsoncology.org/gene/233/abi1-(abl-interactor-1)