ABI1 (Abl-Interactor 1)
2000-04-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
10p12.1
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
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9010225 | 1997 | Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth. | Biesova Z et al |
| 9694699 | 1998 | 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 et al |
| 9593709 | 1998 | 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 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
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162372878 | dasatinib | Chemical | LabelAnnotation | associated | |||
| PA165980594 | ponatinib | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37545215 | 2024 | Pan-cancer transcriptomic data of ABI1 transcript variants and molecular constitutive elements identifies novel cancer metastatic and prognostic biomarkers. | 0 |
| 37545215 | 2024 | Pan-cancer transcriptomic data of ABI1 transcript variants and molecular constitutive elements identifies novel cancer metastatic and prognostic biomarkers. | 0 |
| 34967509 | 2022 | ABI1-based expression signature predicts breast cancer metastasis and survival. | 4 |
| 34967509 | 2022 | ABI1-based expression signature predicts breast cancer metastasis and survival. | 4 |
| 33759281 | 2021 | RNA Splicing of the Abi1 Gene by MBNL1 contributes to macrophage-like phenotype modulation of vascular smooth muscle cell during atherogenesis. | 7 |
| 34031495 | 2021 | The roles and prognostic significance of ABI1-TSV-11 expression in patients with left-sided colorectal cancer. | 3 |
| 34369620 | 2021 | Acetylation of Abelson interactor 1 at K416 regulates actin cytoskeleton and smooth muscle contraction. | 8 |
| 33759281 | 2021 | RNA Splicing of the Abi1 Gene by MBNL1 contributes to macrophage-like phenotype modulation of vascular smooth muscle cell during atherogenesis. | 7 |
| 34031495 | 2021 | The roles and prognostic significance of ABI1-TSV-11 expression in patients with left-sided colorectal cancer. | 3 |
| 34369620 | 2021 | Acetylation of Abelson interactor 1 at K416 regulates actin cytoskeleton and smooth muscle contraction. | 8 |
| 32606387 | 2020 | Distinctive roles of Abi1 in regulating actin-associated proteins during human smooth muscle cell migration. | 12 |
| 32673396 | 2020 | PTEN dephosphorylates Abi1 to promote epithelial morphogenesis. | 12 |
| 32728066 | 2020 | PTEN suppresses epithelial-mesenchymal transition and cancer stem cell activity by downregulating Abi1. | 21 |
| 32606387 | 2020 | Distinctive roles of Abi1 in regulating actin-associated proteins during human smooth muscle cell migration. | 12 |
| 32673396 | 2020 | PTEN dephosphorylates Abi1 to promote epithelial morphogenesis. | 12 |
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)
