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
ABI1
LOCATION
10p12.1
IMAGE
Atlas Image
LEGEND
ABI1 (10p11) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
10006
ALIAS
ABI-1,ABLBP4,E3B1,NAP1BP,SSH3BP,SSH3BP1
FUSION GENES
Show Gene Fusions

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

Article 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162372878dasatinibChemicalLabelAnnotationassociated
PA165980594ponatinibChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
375452152024Pan-cancer transcriptomic data of ABI1 transcript variants and molecular constitutive elements identifies novel cancer metastatic and prognostic biomarkers.0
375452152024Pan-cancer transcriptomic data of ABI1 transcript variants and molecular constitutive elements identifies novel cancer metastatic and prognostic biomarkers.0
349675092022ABI1-based expression signature predicts breast cancer metastasis and survival.4
349675092022ABI1-based expression signature predicts breast cancer metastasis and survival.4
337592812021RNA Splicing of the Abi1 Gene by MBNL1 contributes to macrophage-like phenotype modulation of vascular smooth muscle cell during atherogenesis.7
340314952021The roles and prognostic significance of ABI1-TSV-11 expression in patients with left-sided colorectal cancer.3
343696202021Acetylation of Abelson interactor 1 at K416 regulates actin cytoskeleton and smooth muscle contraction.8
337592812021RNA Splicing of the Abi1 Gene by MBNL1 contributes to macrophage-like phenotype modulation of vascular smooth muscle cell during atherogenesis.7
340314952021The roles and prognostic significance of ABI1-TSV-11 expression in patients with left-sided colorectal cancer.3
343696202021Acetylation of Abelson interactor 1 at K416 regulates actin cytoskeleton and smooth muscle contraction.8
326063872020Distinctive roles of Abi1 in regulating actin-associated proteins during human smooth muscle cell migration.12
326733962020PTEN dephosphorylates Abi1 to promote epithelial morphogenesis.12
327280662020PTEN suppresses epithelial-mesenchymal transition and cancer stem cell activity by downregulating Abi1.21
326063872020Distinctive roles of Abi1 in regulating actin-associated proteins during human smooth muscle cell migration.12
326733962020PTEN 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