Human Gene WASL (ENST00000223023.5_7) from GENCODE V47lift37
  Description: WASP like actin nucleation promoting factor (from RefSeq NM_003941.4)
Gencode Transcript: ENST00000223023.5_7
Gencode Gene: ENSG00000106299.8_9
Transcript (Including UTRs)
   Position: hg19 chr7:123,321,997-123,389,057 Size: 67,061 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr7:123,324,573-123,388,788 Size: 64,216 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:123,321,997-123,389,057)mRNA (may differ from genome)Protein (505 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WASL_HUMAN
DESCRIPTION: RecName: Full=Neural Wiskott-Aldrich syndrome protein; Short=N-WASP;
FUNCTION: Regulates actin polymerization by stimulating the actin- nucleating activity of the Arp2/3 complex. Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression.
SUBUNIT: Binds actin and the Arp2/3 complex. Interacts with CDC42. Binds to SH3 domains of GRB2. Interacts with the C-terminal SH3 domain of DNMBP. Interacts with SNX9. Interacts with the WW domains of PRPF40A/FBP11. Interacts with PTK2/FAK1 (By similarity). Interacts with NOSTRIN. Interacts with Shigella flexneri protein IcsA. The interaction with IcsA enhances the affinity of WASL for Arp2/3, thus assembling a tight complex which has maximal activity in actin assembly. Interacts with E.coli effector protein EspF(U). Identified in a complex containing at least WASL, BAIAP2L1 and E.coli EspF(U). Binds to TNK2.
INTERACTION: P61157:ACTR3 (xeno); NbExp=3; IntAct=EBI-957615, EBI-351419; P60953:CDC42; NbExp=3; IntAct=EBI-957615, EBI-81752; Q8R511:Fnbp1 (xeno); NbExp=2; IntAct=EBI-957615, EBI-1111424; P62993:GRB2; NbExp=3; IntAct=EBI-957615, EBI-401755; O60504-2:SORBS3; NbExp=2; IntAct=EBI-957615, EBI-1222956; O43516:WIPF1; NbExp=3; IntAct=EBI-957615, EBI-346356;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Nucleus (By similarity). Note=Preferentially localized in the cytoplasm when phosphorylated and in the nucleus when unphosphorylated (By similarity).
PTM: Phosphorylation at Ser-242, Tyr-256, Ser-484 and Ser-485 enhances actin polymerization activity.
SIMILARITY: Contains 1 CRIB domain.
SIMILARITY: Contains 1 WH1 domain.
SIMILARITY: Contains 2 WH2 domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: WASL
Diseases sorted by gene-association score: wiskott-aldrich syndrome (56), vaccinia (5), spinocerebellar ataxia with axonal neuropathy type 2 (4), buruli ulcer (3), x-linked disease (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.01 RPKM in Artery - Tibial
Total median expression: 784.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.20269-0.439 Picture PostScript Text
3' UTR -556.402576-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000697 - EVH1
IPR000095 - PAK_box_Rho-bd
IPR011993 - PH_like_dom
IPR011026 - WASP_C
IPR003124 - WH2_dom

Pfam Domains:
PF00568 - WH1 domain
PF00786 - P21-Rho-binding domain
PF02205 - WH2 motif

SCOP Domains:
47912 - Wiscott-Aldrich syndrome protein, WASP, C-terminal domain
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2FF3 - X-ray MuPIT 2LNH - NMR MuPIT 2VCP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O00401
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0030695 GTPase regulator activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006900 membrane budding
GO:0007015 actin filament organization
GO:0007049 cell cycle
GO:0008154 actin polymerization or depolymerization
GO:0009617 response to bacterium
GO:0016050 vesicle organization
GO:0030036 actin cytoskeleton organization
GO:0030050 vesicle transport along actin filament
GO:0032880 regulation of protein localization
GO:0034629 cellular protein complex localization
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0048013 ephrin receptor signaling pathway
GO:0050999 regulation of nitric-oxide synthase activity
GO:0051301 cell division
GO:0051491 positive regulation of filopodium assembly
GO:0051653 spindle localization
GO:0060997 dendritic spine morphogenesis
GO:0061024 membrane organization
GO:0065003 macromolecular complex assembly
GO:1903526 negative regulation of membrane tubulation
GO:2000370 positive regulation of clathrin-dependent endocytosis
GO:2000402 negative regulation of lymphocyte migration
GO:2000601 positive regulation of Arp2/3 complex-mediated actin nucleation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0015629 actin cytoskeleton
GO:0030027 lamellipodium
GO:0030478 actin cap
GO:0030666 endocytic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  CR749438 - Homo sapiens mRNA; cDNA DKFZp779G0847 (from clone DKFZp779G0847).
BC052955 - Homo sapiens Wiskott-Aldrich syndrome-like, mRNA (cDNA clone MGC:48327 IMAGE:5264663), complete cds.
LF384083 - JP 2014500723-A/191586: Polycomb-Associated Non-Coding RNAs.
BC028602 - Homo sapiens cDNA clone IMAGE:4815191, containing frame-shift errors.
AK289795 - Homo sapiens cDNA FLJ76749 complete cds, highly similar to Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.
D88460 - Homo sapiens mRNA for N-WASP, complete cds.
KJ897940 - Synthetic construct Homo sapiens clone ccsbBroadEn_07334 WASL gene, encodes complete protein.
AM295156 - Homo sapiens mRNA for WASL protein.
AB587496 - Synthetic construct DNA, clone: pF1KB9123, Homo sapiens WASL gene for Wiskott-Aldrich syndrome-like, without stop codon, in Flexi system.
CU690940 - Synthetic construct Homo sapiens gateway clone IMAGE:100020868 5' read WASL mRNA.
BC013776 - Homo sapiens Wiskott-Aldrich syndrome-like, mRNA (cDNA clone IMAGE:3917566), with apparent retained intron.
MA619660 - JP 2018138019-A/191586: Polycomb-Associated Non-Coding RNAs.
AK023554 - Homo sapiens cDNA FLJ13492 fis, clone PLACE1004284.
AK131016 - Homo sapiens cDNA FLJ27506 fis, clone TST07655.
LF360525 - JP 2014500723-A/168028: Polycomb-Associated Non-Coding RNAs.
LF360526 - JP 2014500723-A/168029: Polycomb-Associated Non-Coding RNAs.
LF360533 - JP 2014500723-A/168036: Polycomb-Associated Non-Coding RNAs.
LF360534 - JP 2014500723-A/168037: Polycomb-Associated Non-Coding RNAs.
LF360535 - JP 2014500723-A/168038: Polycomb-Associated Non-Coding RNAs.
MA596102 - JP 2018138019-A/168028: Polycomb-Associated Non-Coding RNAs.
MA596103 - JP 2018138019-A/168029: Polycomb-Associated Non-Coding RNAs.
MA596110 - JP 2018138019-A/168036: Polycomb-Associated Non-Coding RNAs.
MA596111 - JP 2018138019-A/168037: Polycomb-Associated Non-Coding RNAs.
MA596112 - JP 2018138019-A/168038: Polycomb-Associated Non-Coding RNAs.
JD461122 - Sequence 442146 from Patent EP1572962.
JD520559 - Sequence 501583 from Patent EP1572962.
JD095445 - Sequence 76469 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_cdc42racPathway - Role of PI3K subunit p85 in regulation of Actin Organization and Cell Migration
h_actinYPathway - Y branching of actin filaments
h_salmonellaPathway - How does salmonella hijack a cell

Reactome (by CSHL, EBI, and GO)

Protein O00401 (Reactome details) participates in the following event(s):

R-HSA-203565 eNOS:Caveolin-1:NOSTRIN:dynamin-2 complex binds N-WASP
R-HSA-418874 Recruitment and activation of N-WASP by Cdc42
R-HSA-532603 Nephrin mediated activation of N-WASP
R-HSA-3928600 N-WASP binds ITSN1
R-HSA-442586 Activation of WASP and N-WASP by CDC42
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-3928632 ITSN1 exchanges GTP for GDP on CDC42, activating it
R-HSA-2197691 Activation of WASP/N-WASP by WIP family and SH3 domain proteins
R-HSA-2197698 Phosphorylation of WASP/N-WASP
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-3928601 CDC42 and PIP2 bind WASL, activating it
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-442592 WASPs or WAVEs activate the ARP2/3 complex
R-HSA-2197690 Detachment of WASP/WAVE
R-HSA-3928595 N-WASP binds ARP2/3 and G-actin
R-HSA-2029466 Attachment of preexisting mother filament and initiation of branching
R-HSA-203641 NOSTRIN mediated eNOS trafficking
R-HSA-418885 DCC mediated attractive signaling
R-HSA-373753 Nephrin family interactions
R-HSA-3928662 EPHB-mediated forward signaling
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-203765 eNOS activation and regulation
R-HSA-373752 Netrin-1 signaling
R-HSA-1500931 Cell-Cell communication
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-195258 RHO GTPase Effectors
R-HSA-199991 Membrane Trafficking
R-HSA-202131 Metabolism of nitric oxide
R-HSA-422475 Axon guidance
R-HSA-168249 Innate Immune System
R-HSA-194315 Signaling by Rho GTPases
R-HSA-5653656 Vesicle-mediated transport
R-HSA-1430728 Metabolism
R-HSA-1266738 Developmental Biology
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A1JUI9, ENST00000223023.1, ENST00000223023.2, ENST00000223023.3, ENST00000223023.4, NM_003941, O00401, Q7Z746, uc317dgd.1, uc317dgd.2, WASL_HUMAN
UCSC ID: ENST00000223023.5_7
RefSeq Accession: NM_003941.4
Protein: O00401 (aka WASL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.