Human Gene WASF3 (ENST00000335327.6_9) from GENCODE V47lift37
  Description: WASP family member 3, transcript variant 1 (from RefSeq NM_006646.6)
Gencode Transcript: ENST00000335327.6_9
Gencode Gene: ENSG00000132970.14_15
Transcript (Including UTRs)
   Position: hg19 chr13:27,131,820-27,263,085 Size: 131,266 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr13:27,216,408-27,259,982 Size: 43,575 Coding Exon Count: 8 

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 (chr13:27,131,820-27,263,085)mRNA (may differ from genome)Protein (502 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WASF3_HUMAN
DESCRIPTION: RecName: Full=Wiskott-Aldrich syndrome protein family member 3; Short=WASP family protein member 3; AltName: Full=Protein WAVE-3; AltName: Full=Verprolin homology domain-containing protein 3;
FUNCTION: Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
SUBUNIT: Binds actin and the Arp2/3 complex.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TISSUE SPECIFICITY: Expressed in ovary and brain.
DOMAIN: Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain.
PTM: Phosphorylation by ABL1 promotes lamellipodia formation and cell migration.
SIMILARITY: Belongs to the SCAR/WAVE family.
SIMILARITY: Contains 1 WH2 domain.
SEQUENCE CAUTION: Sequence=BAA74923.2; Type=Erroneous initiation;

-  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: WASF3
Diseases sorted by gene-association score: wiskott-aldrich syndrome (38), ganglioneuroblastoma (33), trichomoniasis (8)

-  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: 45.96 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 669.65 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 -97.20245-0.397 Picture PostScript Text
3' UTR -852.103103-0.275 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
IPR003124 - WH2_dom

Pfam Domains:
PF02205 - WH2 motif

ModBase Predicted Comparative 3D Structure on Q9UPY6
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 orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape
GO:0014003 oligodendrocyte development
GO:0030032 lamellipodium assembly
GO:0030036 actin cytoskeleton organization
GO:0030041 actin filament polymerization
GO:0031643 positive regulation of myelination
GO:0065003 macromolecular complex assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0030027 lamellipodium
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC050283 - Homo sapiens WAS protein family, member 3, mRNA (cDNA clone MGC:41773 IMAGE:5300292), complete cds.
AF454702 - Homo sapiens WAVE3 mRNA, complete cds.
AB020707 - Homo sapiens KIAA0900 mRNA for KIAA0900 protein.
AL133590 - Homo sapiens mRNA; cDNA DKFZp434L079 (from clone DKFZp434L079).
S69790 - Brush-1=tumor suppressor {3' region} [human, breast epithelium, mRNA Partial, 1485 nt].
AK289845 - Homo sapiens cDNA FLJ76648 complete cds, highly similar to Homo sapiens WAS protein family, member 3 (WASF3), mRNA.
JD462614 - Sequence 443638 from Patent EP1572962.
JD104553 - Sequence 85577 from Patent EP1572962.
AB385397 - Synthetic construct DNA, clone: pF1KA0900, Homo sapiens WASF3 gene for Wiskott-Aldrich syndrome protein family member 3, complete cds, without stop codon, in Flexi system.
KJ902161 - Synthetic construct Homo sapiens clone ccsbBroadEn_11555 WASF3 gene, encodes complete protein.
AB026543 - Homo sapiens WAVE3 mRNA for WASP-family protein, complete cds.
AF134305 - Homo sapiens Scar3 (KIAA0900) mRNA, partial cds.
AK294725 - Homo sapiens cDNA FLJ51674 complete cds, highly similar to Wiskott-Aldrich syndrome protein family member 3.
JD498223 - Sequence 479247 from Patent EP1572962.
JD263071 - Sequence 244095 from Patent EP1572962.
JD301651 - Sequence 282675 from Patent EP1572962.
JD286183 - Sequence 267207 from Patent EP1572962.
JD495046 - Sequence 476070 from Patent EP1572962.
JD228781 - Sequence 209805 from Patent EP1572962.
JD167937 - Sequence 148961 from Patent EP1572962.
JD063105 - Sequence 44129 from Patent EP1572962.
JD378845 - Sequence 359869 from Patent EP1572962.
JD358926 - Sequence 339950 from Patent EP1572962.
JD063432 - Sequence 44456 from Patent EP1572962.
JD135142 - Sequence 116166 from Patent EP1572962.
JD101402 - Sequence 82426 from Patent EP1572962.
JD324130 - Sequence 305154 from Patent EP1572962.
JD470845 - Sequence 451869 from Patent EP1572962.
JD466400 - Sequence 447424 from Patent EP1572962.
JD217181 - Sequence 198205 from Patent EP1572962.
JD531317 - Sequence 512341 from Patent EP1572962.
JD333057 - Sequence 314081 from Patent EP1572962.
JD473892 - Sequence 454916 from Patent EP1572962.
JD287342 - Sequence 268366 from Patent EP1572962.
JD513808 - Sequence 494832 from Patent EP1572962.
JD372045 - Sequence 353069 from Patent EP1572962.
JD162406 - Sequence 143430 from Patent EP1572962.
JD202770 - Sequence 183794 from Patent EP1572962.
JD427875 - Sequence 408899 from Patent EP1572962.
DQ592268 - Homo sapiens piRNA piR-59380, complete sequence.
JD183249 - Sequence 164273 from Patent EP1572962.
JD283787 - Sequence 264811 from Patent EP1572962.
JD232674 - Sequence 213698 from Patent EP1572962.
JD526106 - Sequence 507130 from Patent EP1572962.
JD065140 - Sequence 46164 from Patent EP1572962.
JD260085 - Sequence 241109 from Patent EP1572962.
JD112743 - Sequence 93767 from Patent EP1572962.
JD493890 - Sequence 474914 from Patent EP1572962.
JD086044 - Sequence 67068 from Patent EP1572962.
JD465647 - Sequence 446671 from Patent EP1572962.
JD519889 - Sequence 500913 from Patent EP1572962.
JD223850 - Sequence 204874 from Patent EP1572962.
JD079137 - Sequence 60161 from Patent EP1572962.
JD287903 - Sequence 268927 from Patent EP1572962.
JD554821 - Sequence 535845 from Patent EP1572962.
JD553243 - Sequence 534267 from Patent EP1572962.
JD429788 - Sequence 410812 from Patent EP1572962.
JD350687 - Sequence 331711 from Patent EP1572962.
JD171200 - Sequence 152224 from Patent EP1572962.
JD042344 - Sequence 23368 from Patent EP1572962.
JD295946 - Sequence 276970 from Patent EP1572962.
JD179980 - Sequence 161004 from Patent EP1572962.
JD260353 - Sequence 241377 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_actinYPathway - Y branching of actin filaments

Reactome (by CSHL, EBI, and GO)

Protein Q9UPY6 (Reactome details) participates in the following event(s):

R-HSA-2029465 WAVE Regulatory Complex (WRC) interacts with RAC1 and PIP3 and gets activated
R-HSA-2130194 ABL phosphorylates WAVEs
R-HSA-2029469 p-ERK phosphorylates WAVEs and ABI
R-HSA-442592 WASPs or WAVEs activate the ARP2/3 complex
R-HSA-2197690 Detachment of WASP/WAVE
R-HSA-2029466 Attachment of preexisting mother filament and initiation of branching
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-194138 Signaling by VEGF
R-HSA-195258 RHO GTPase Effectors
R-HSA-168249 Innate Immune System
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000335327.1, ENST00000335327.2, ENST00000335327.3, ENST00000335327.4, ENST00000335327.5, KIAA0900, NM_006646, O94974, Q86VQ2, Q9UPY6, SCAR3, uc317ufs.1, uc317ufs.2, WASF3_HUMAN, WAVE3
UCSC ID: ENST00000335327.6_9
RefSeq Accession: NM_006646.6
Protein: Q9UPY6 (aka WASF3_HUMAN or WAS3_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.