Description: Homo sapiens WAS protein family, member 3 (WASF3), mRNA. RefSeq Summary (NM_006646): This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]. Transcript (Including UTRs) Position: hg19 chr13:27,131,840-27,263,082 Size: 131,243 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr13:27,216,408-27,259,982 Size: 43,575 Coding Exon Count: 8
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;
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Weight Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
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.
ModBase Predicted Comparative 3D Structure on Q9UPY6
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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.