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FLASH GENE

Symbol

ABI1

contributors: mct/ - updated : 23-08-2011

HGNC name	abl-interactor 1
HGNC id	11320

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005470 12 - 3725 NP_005461 - 508 - 2006 17101133 variant 1/isoform a NM_001012750 11 - 3644 NP_001012768 - 481 - 2006 17101133 variant 2/isoform b NM_001012751 10 - 3557 NP_001012769 - 452 - 2006 17101133 variant 3/isoform c NM_001012752 10 - 3629 NP_001012770 - 476 - 2006 17101133 variant 4/isoform d NM_001178116 12 - 3689 NP_001171587 - 496 - - variant 5/isoform e NM_001178119 11 - 3641 NP_001171590 - 480 - - variant 6/isoform f NM_001178120 10 - 3554 NP_001171591 - 451 - - variant 7/isoform g NM_001178121 9 - 3539 NP_001171592 - 446 - - variant 8/isoform h NM_001178122 10 - 3467 NP_001171593 - 422 - - variant 9/isoform i NM_001178124 8 - 3365 NP_001171595 - 388 - - variant 11/isoform k NM_001178125 7 - 3188 NP_001171596 - 329 - - variant 12/isoform l NM_001178123 9 - 3380 NP_001171594 - 393 - - variant 10/isoform j

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive esophagus       highly   mouth       highly Lymphoid/Immune thymus       highly Nervous brain       highly Reproductive male system prostate       Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Muscular striatum skeletal

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cancer digestive stomach a potential target for therapeutic intervention cancer reproductive breast therapeutic target for the treatment of human breast cancer cancer metastases   development of inhibitors of the ABI1–ITGA4 interaction may be an alternative therapeutic strategy for the treatment of metastatic tumors immunology inflammatory   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