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MGP003319

UniProt Annotations

Entry Information

Gene Name	wingless-type MMTV integration site family, member 5A
Protein Entry	WNT5A_HUMAN
UniProt ID	P41221
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P41221-1; Sequence=Displayed; Name=2; IsoId=P41221-2; Sequence=VSP_035594;
Disease	Robinow syndrome autosomal dominant (DRS) [MIM:180700]: A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases. {ECO:0000269\|PubMed:19918918}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression. Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor. Mediates motility of melanoma cells. Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle. Inhibits type II collagen expression in chondrocytes. {ECO:0000269\|PubMed:15735754, ECO:0000269\|PubMed:17426020}.
Ptm	Glycosylation is necessary for secretion but not for activity. {ECO:0000250}.
Ptm	Palmitoylation at Ser-244 is required for efficient binding to frizzled receptors. Palmitoylation is necessary for proper trafficking to cell surface (By similarity). {ECO:0000250}.
Ptm	Palmitoylation is necessary for stimulation of cell migration, inhibition of the beta-catenin pathway and receptor binding. {ECO:0000250}.
Ptm	Proteolytic processing by TIKI1 and TIKI2 promotes oxidation and formation of large disulfide-bond oligomers, leading to inactivation of WNT5A. {ECO:0000250}.
Similarity	Belongs to the Wnt family. {ECO:0000305}.
Subcellular Location	Secreted, extracellular space, extracellular matrix.
Subunit	Homooligomer; disulfide-linked, leading to inactivation. Interacts with PORCN. Interacts with WLS (By similarity). {ECO:0000250}.
Tissue Specificity	Expression is increased in differentiated thyroid carcinomas compared to normal thyroid tissue and anaplastic thyroid tumors where expression is low or undetectable. Expression is found in thyrocytes but not in stromal cells (at protein level). {ECO:0000269\|PubMed:15735754}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/WNT5AID42825ch3p14.html";