Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the DVL1 gene. [5] [6]
DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for processes involved in cell transformations involved in neuroblastoma. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. Three transcript variants encoding three different isoforms have been found for this gene. [6]
DVL1 has been shown to interact with:
The Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. The name Wnt is a portmanteau created from the names Wingless and Int-1. Wnt signaling pathways use either nearby cell-cell communication (paracrine) or same-cell communication (autocrine). They are highly evolutionarily conserved in animals, which means they are similar across animal species from fruit flies to humans.
Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the APC gene. The APC protein is a negative regulator that controls beta-catenin concentrations and interacts with E-cadherin, which are involved in cell adhesion. Mutations in the APC gene may result in colorectal cancer and desmoid tumors.
Frzb is a Wnt-binding protein especially important in embryonic development. It is a competitor for the cell-surface G-protein receptor Frizzled.
Catenin beta-1, also known as β-catenin (beta-catenin), is a protein that in humans is encoded by the CTNNB1 gene.
Frizzled is a family of atypical G protein-coupled receptors that serve as receptors in the Wnt signaling pathway and other signaling pathways. When activated, Frizzled leads to activation of Dishevelled in the cytosol.
Glycogen synthase kinase-3 beta, (GSK-3 beta), is an enzyme that in humans is encoded by the GSK3B gene. In mice, the enzyme is encoded by the Gsk3b gene. Abnormal regulation and expression of GSK-3 beta is associated with an increased susceptibility towards bipolar disorder.
Axin-1 is a protein that in humans is encoded by the AXIN1 gene.
Frizzled-5(Fz-5) is a protein that in humans is encoded by the FZD5 gene.
Frizzled-6(Fz-6) is a protein that in humans is encoded by the FZD6 gene.
Frizzled-8(Fz-8) is a protein that in humans is encoded by the FZD8 gene.
Axin-2, also known as axin-like protein (Axil), axis inhibition protein 2 (AXIN2), or conductin, is a protein that in humans is encoded by the AXIN2 gene.
Segment polarity protein dishevelled homolog DVL-2 is a protein that in humans is encoded by the DVL2 gene.
Proto-oncogene FRAT1 is a protein that in humans is encoded by the FRAT1 gene.
Segment polarity protein dishevelled homolog DVL-3 is a protein that in humans is encoded by the DVL3 gene.
Dishevelled (Dsh) is a family of proteins involved in canonical and non-canonical Wnt signalling pathways. Dsh is a cytoplasmic phosphoprotein that acts directly downstream of frizzled receptors. It takes its name from its initial discovery in flies, where a mutation in the dishevelled gene was observed to cause improper orientation of body and wing hairs. There are vertebrate homologs in zebrafish, Xenopus (Xdsh), mice and humans. Dsh relays complex Wnt signals in tissues and cells, in normal and abnormal contexts. It is thought to interact with the SPATS1 protein when regulating the Wnt Signalling pathway.
Naked cuticle 1 (NKD1) is a human gene that encodes the protein Nkd1, a member of the Naked cuticle (Nkd) family of proteins that regulate the Wnt signaling pathway. Insects typically have a single Nkd gene, whereas there are two Nkd genes, Nkd1 and Nkd2, in most vertebrates studied to date. Nkd1 binds to the Dishevelled (Dvl) family of proteins. Specific truncating NKD1 mutations identified in DNA mismatch repair deficient colon cancer that disrupt Nkd1/Dvl binding implicate these mutations as a cause of increased Wnt signaling in a subset of human colon cancers, the majority of which have increased Wnt signaling due to mutations the adenomatous polyposis coli (APC), AXIN2, or rarely the beta-catenin genes.
Naked cuticle 2 (NKD2) is a human gene that encodes the protein Nkd2, one of the Naked cuticle (Nkd) family of proteins that regulate the Wnt signaling pathway. Both Nkd1 and Nkd2 proteins can bind to Dishevelled proteins, but only Nkd2 can bind to the EGF-ligand family member TGF alpha and regulate its polarized secretion in cultured epithelial cells.
Naked cuticle (Nkd) is a conserved family of intracellular proteins encoded in most animal genomes. The original mutants were discovered by 1995 Nobel laureates Christiane Nüsslein-Volhard and Eric F. Wieschaus and colleagues in their genetic screens for pattern-formation mutants in the fruit fly Drosophila melanogaster. The Nkd gene family was first cloned in the laboratory of Matthew P. Scott. Like many cleverly named fly mutants, the name "naked cuticle" derives from the fact that mutants lack most of the hair-like protrusions from their ventral cuticle and thus appear "naked".
Kang-Yell Choi is a professor of biotechnology at Yonsei University, and has a joint appointment position as a CEO of CK Regeon Inc. in Seoul, Korea. He has been performing researches related to cellular signaling, especially for the Wnt/β-catenin pathway involving various pathophysiologies. Choi has been leading the Translational Research Center for Protein Function Control (TRCP), a Korean government supported drug development institute, as a director for 10 years. Choi has been carrying out R&D to develop agents controlling the Wnt/β-catenin signaling pathway. Choi's main interest is development of the agents to treat intractable diseases that suppress tissue regeneration system through overexpression of CXXC5 and subsequent suppression of the Wnt/β-catenin signaling.
Prickle planar cell polarity protein 1 is a protein that in humans is encoded by the PRICKLE1 gene.