Aliases for WNT1 Gene
External Ids for WNT1 Gene
Previous HGNC Symbols for WNT1 Gene
Previous GeneCards Identifiers for WNT1 Gene
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
GeneCards Summary for WNT1 Gene
WNT1 (Wnt Family Member 1) is a Protein Coding gene. Diseases associated with WNT1 include Osteogenesis Imperfecta, Type Xv and Bone Mineral Density Quantitative Trait Locus 16. Among its related pathways are Presenilin-Mediated Signaling and Presynaptic function of Kainate receptors. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and transcription regulatory region DNA binding. An important paralog of this gene is WNT4.
UniProtKB/Swiss-Prot Summary for WNT1 Gene
Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:26902720, PubMed:28528193, PubMed:23656646). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (PubMed:23499309, PubMed:23656646).