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FLASH GENE

Symbol

WAS

contributors: mct/npt - updated : 09-04-2016

HGNC name	Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
HGNC id	12731

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	7.63 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	alternative promoter
	Binding site   transcription factor
text structure	GTPase binding site

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - TBC1D25 - DXS7465E - DXS6675 - DXS7927E - DXS722 - DXS7467E - DXS1011E - WAS - DXS1358 - DXS7466E - DXS6674 - GATA1 - DXS226 - ERAS - DXS1126 - DXS8220 - DXS7469E - DXS1470 - DXS8227 - cen
Authors	Boycott (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000377 12 - 1844 NP_000368 53 502 - Andreu (2003)

EXPRESSION

Type	restricted

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 blood / hematopoietic spleen       lowly   thymus       predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erythroblast Blood/Hematopoietic megakaryocyte Blood/Hematopoietic neutrophil Lymphoid/Immune lymphocyte Lymphoid/Immune macrophage

cell lineage	hematopoietic cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal WH1 domain binds the chaperone, WAS-interacting protein (WIPF1)
	a GBD domain
	proline rich protein P21-Rho-binding domain (PBD)also facilitating filament elongation
	a VCA domain interacting with ARP2/3, and phosphorylation of the VCA domain enhances this interaction, which leads to actin polymerization (Zhang 2009)
	a conserved aldolase binding motif

HOMOLOGY

interspecies

homolog to murine Wasp

Homologene

FAMILY

(WASP)/WASP-family Verprolin homologous (WAVE) proteins

CATEGORY

regulatory , structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,cytoplasm,cytoskeleton,microfilament

basic FUNCTION	putatively involved in actin polymerization, cytoskeleton rearrangement and lymphoid signaling in response to external stimuli transmitted by tyrosine kinase receptors and small GTPases
	playing a role in cell organization
	controlling in cooperation with CDC42, the podosomes (dynamic actin-containing adhesion structures of primary human macrophage and involved in migratory processes)
	playing a unique role for peripheral T cell function, but T cell development depends on the combined activity of WAS and WASL
	involved in signaling and cytoskeletal organization that includes WAS and Scar/WASP-family verprolin homologous (WAVE) proteins (Le Bras 2009)
	plays a critical role in cellular function by linking surface receptor signaling to actin reorganization (Le Bras 2009)
	cytoskeletal regulator in hematopoietic cells (Blundell 2009)
	crucial role in filopodia formation
	cytoskeletal remodeling mediated by WAS in dendritic cells is necessary for normal immune synapse formation and T-cell priming
	controls CD4(+) T-cell motility upon antigen-presenting cells (APC) encounter by regulating lymphocyte function-associated antigen 1 spatial distribution
	WAS and WIPF1 localise to the actin rich core of podosomes and play a critical role in their formation
	regulates actin polymerization in nucleated hematopoietic cells but has other role(s) in platelets
	WAS function restricts TGFB1 secretion in a CDC42- and SRC family kinase-dependent manner and independently of actin assembly
	novel role for PSTPIP1 and WAS in orchestrating different
	types of actin-based protrusions
	WAS and WASF2 differ in their dynamics and their associated proteins
	WAS and WASF1 may both be required to build pseudopods
	WAS is crucial for pseudopod formation of neutrophils

CELLULAR PROCESS	cell organization/biogenesis
	cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	forming a complex with FBNP1, DNM2, TRIP10 in the early stage of endocytosis
	complex formation of FNBP1 with WAS, WIPF1, and dynamin-2 at the plasma membrane is critical for the formation of podosomes and phagocytic cups (Tsuboi 2009)
	interacting with SNX33 through its VCA domain (Zhang 2009)

INTERACTION

DNA

RNA

small molecule

protein	CDC42 and RAC1 to the cytoskeletal regulation of B lymphocytes
	binding NCK, GRB2 and the GTPase-GTP binding protein CDC42
	selectively associating with SH3 homology domains
	interactig with intersection 2 (ITSN2) and CDC42 to link the clathrin endocytosis machinery to WASP-mediated actin polymerization and ultimately to occupancy-induced TCR endocytosis
	WIRE
	new function for WAS in the control of neutrophil polarity via crosstalk between ITGAM and microtubules
	TGFBR3 is a novel regulator of BAIAP2/WAS via CDC42 to regulate filopodial formation and cell adhesion

cell & other

REGULATION

activated by

CDC42, playing a role in activation of T cells during engagement by antigen-presenting cells

Other	provides a link between CDC42 and the actin cytoskeleton
	regulated by WASPIP (stabilizes WASP and important for its function)
	phosphorylation is a key event in the activation of WAS during many cellular activities (Blundell 2009)
	disruption of WAS ubiquitylation causes WAS accumulation and alters actin dynamics and the formation of actin-dependent structures

ASSOCIATED DISORDERS

corresponding disease(s)

XLT , XLN , WASP

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS