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Symbol WAS contributors: mct/npt - updated : 09-04-2016
HGNC name Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
HGNC id 12731
Corresponding disease
WASP Wiskott-Aldrich syndrome
XLN neutropenia, severe congenital
XLT thrombocytopenia 1
Location Xp11.23      Physical location : 48.542.185 - 48.549.815
Synonym name Wiskott-Aldrich syndrome protein
Synonym symbol(s) THC, IMD2, WASP, SCNX, THC1
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)
Physical map
LOC392460 X similar to Ornithine aminotransferase, mitochondrial precursor (Ornithine--oxo-acid aminotransferase) psiSSX3 Xp11.2 SSX3 pseudogene SSX5 Xp11.2-p11.1 synovial sarcoma, X breakpoint 5 LOC392462 X similar to synovial sarcoma, X breakpoint 6 SSX1 Xp11.23-p11.22 synovial sarcoma, X breakpoint 1 psiSSX8 Xp11.2 psiSSX8 pseudogene SSX9 Xp11.23 synovial sarcoma, X breakpoint 9 psiSSX9 Xp11.2 SSX9 pseudogene SSX3 Xp11.2-p11.1 synovial sarcoma, X breakpoint 3 SSX4 Xp11.2-p11.1 synovial sarcoma, X breakpoint 4 SLC38A5 Xp11.23 solute carrier family 38, member 5 FTSJ1 Xp11.23 FtsJ homolog 1 (E. coli) PPN Xp11.23 likely ortholog of mouse porcupine homolog (Drosophila) EBP Xp11.23-p11.22 emopamil binding protein (sterol isomerase) OATL1 Xp11.23-p11.22 ornithine aminotransferase-like 1 RBM3 Xp11.23 RNA binding motif protein 3 MRPL32P1 Xq11.23 RNA binding motif protein 3 WDR13 Xp11.23 WD repeat domain 13 WAS Xp11.23-p11.22 Wiskott-Aldrich syndrome (eczema-thrombocytopenia) SUV39H1 Xp11.23 suppressor of variegation 3-9 homolog 1 (Drosophila) LOC392465 X similar to RIKEN cDNA 2010001H14 LOC389854 X similar to Acetyl-coenzyme A acyltransferase 2 GATA1 Xp11.23 GATA binding protein 1 (globin transcription factor 1) HDAC6 Xp11.23 histone deacetylase 6 ERAS Xpter-q26 ES cell expressed Ras PCSK1N Xp11.23 proprotein convertase subtilisin/kexin type 1 inhibitor TIMM17B Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) PQBP1 Xp11.3 polyglutamine binding protein 1 SLC35A2 Xp11.23-p11.22 solute carrier family 35 (UDP-galactose transporter), member A2 PIM2 Xp11.3-p11.2 pim-2 oncogene DKFZp761A052 Xp11.23 hypothetical protein DKFZp761A052 KCND1 Xp11.23 potassium voltage-gated channel, Shal-related subfamily, member 1 GRIPAP1 Xp11 GRIP1 associated protein 1 TFE3 Xp11.23-p11.22 transcription factor binding to IGHM enhancer 3 JM11 Xp11.23 JM11 protein
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 1844 53 502 - Andreu (2003)
Type restricted
   expressed in (based on citations)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   lowly
 thymus   predominantly
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
SystemCellPubmedSpeciesStageRna symbol
cell lineage hematopoietic cells
cell lines
  • 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
    interspecies homolog to murine Wasp
    FAMILY (WASP)/WASP-family Verprolin homologous (WAVE) proteins
    CATEGORY regulatory , structural protein
    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
    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)
    small molecule
  • 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
    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
    corresponding disease(s) XLT , XLN , WASP
    Variant & Polymorphism
    Candidate gene
    Therapy target