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FLASH GENE
Symbol ABI1 contributors: mct/ - updated : 23-08-2011
HGNC name abl-interactor 1
HGNC id 11320
Location 10p12.1      Physical location : 27.035.526 - 27.150.016
Synonym name
  • EPS8 binding protein
  • Abelson interactor
  • spectrin SH3 domain binding protein 1
  • Nap1-binding protein
  • Eps8-binding protein
  • Synonym symbol(s) SSH3BP1, E3B1, NAP1, NAP1BP, ABI-1
    DNA
    TYPE functioning gene
    STRUCTURE 114.50 kb     12 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text several alternatively splicing transcripts fusing with HRX (MLL) (Taki)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3725 - 508 - 2006 17101133
    variant 1/isoform a
    11 - 3644 - 481 - 2006 17101133
    variant 2/isoform b
    10 - 3557 - 452 - 2006 17101133
    variant 3/isoform c
    10 - 3629 - 476 - 2006 17101133
    variant 4/isoform d
    12 - 3689 - 496 - -
    variant 5/isoform e
    11 - 3641 - 480 - -
    variant 6/isoform f
    10 - 3554 - 451 - -
    variant 7/isoform g
    9 - 3539 - 446 - -
    variant 8/isoform h
    10 - 3467 - 422 - -
    variant 9/isoform i
    8 - 3365 - 388 - -
    variant 11/isoform k
    7 - 3188 - 329 - -
    variant 12/isoform l
    9 - 3380 - 393 - -
    variant 10/isoform j
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveesophagus   highly
     mouth   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Reproductivemale systemprostate   
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • several polyproline stretches
  • a C terminal SRC3 (SH3) homology domain
  • HOMOLOGY
    interspecies ortholog to murine Ssh3bp1
    homolog to Drosophila Abi
    homolog to C.elegans B0336.6
    ortholog to rattus Nap1
    Homologene
    FAMILY
  • tyrosine kinase-binding protein family
  • ABI family
  • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • participating in the transduction of signals from Ras to Rac by regulating Rac-specific guanine nucleotide exchange factor (GEF) activities
  • playing an essentiel role in modulating WASF2 effector functions
  • implicated in growth-factor-mediated regulation of the small GTPases p21Ras and Rac
  • promotes ABL-mediated PIK3AP1 phosphorylation, suggesting that ABI11 in general coordinates kinase-substrate interactions
  • adaptor protein involved in actin reorganization and lamellipodia formation
  • plays an important role in the spread of breast cancer and that this role may be mediated via the phosphatidylinositol 3-kinase pathway
  • plays critical roles both in the pathogenesis of BCR-Abl-induced leukemia and in the spread of several solid tumors
  • key regulator of actin polymerization/depolymerization
  • role in the regulation of morphogenesis
  • promotes the ABL-mediated phosphorylation of ENAH by binding both ABL and ENAH
  • plays a critical function in actin cytoskeleton dynamics through participation in the WASF2 complex
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text negative control of cell proliferation
    PATHWAY
    metabolism
    signaling signal transduction
    transmembrane receptor protein tyrosine kinase signaling pathway
    a component
  • complexing with EPS8 and putatively mediating the transfer of signals from Ras to Racs
  • complex ABL/ABI1/WASF2 as critical pathway for coupling stimulatory signals to actin cytoskeletal remodeling
  • ABI1 and the neural WASL, forms a complex with KCNN3- channels in neural stem cells, involved in early neurogenesis
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to the SH3 domains of EPS8 and of spectrin (SPTA1)
  • MLLT1
  • interacting with WASF2 for promoting WASF2 membrane translocation
  • PIK3AP1 is an ABI1-interacting protein (SH3 domain of ABI1 and the C-terminal polyproline structure of PIK3AP1 are involved in interactions between the two)
  • interaction with DBNDD1 (possible functions of DBNDD1 at the postsynapse in the regulation of dendritic spine morphogenesis through the interaction with WASF2 and ABI1)
  • target of ITGA4 that positively regulates membrane protrusion by promoting actin polymerization at sites of integrin engagement
  • RAPH1 directly binds active RAC1, which regulates a direct interaction between RAPH1 and the WASF1 complex via ABI1
  • cell & other
    REGULATION
    Other phosphorylation of ABI1 also plays a role in enhancing the adhesion of BCR-ABL-transformed leukemic cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in gastric carcinoma may play a critical role in tumor progression and in determining patient prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker useful diagnostic or prognostic molecular biomarker in gastric carcinoma
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivestomach
    a potential target for therapeutic intervention
    cancerreproductivebreast
    therapeutic target for the treatment of human breast cancer
    cancermetastases 
    development of inhibitors of the ABI1–ITGA4 interaction may be an alternative therapeutic strategy for the treatment of metastatic tumors
    immunologyinflammatory 
    development of inhibitors of the ABI1–ITGA4 interaction may be an alternative therapeutic strategy for inflammatory immune disorders
    ANIMAL & CELL MODELS
  • embryonic lethality of Abi1-deficient embryos, which survived until approximately embryonic day 11.5 and displayed malformations in the developing heart and brain