DVL1 Gene: Dishevelled Segment Polarity Protein 1
Key mediator of Wnt signaling pathways, implicated in developmental disorders and cancer
Gene Information Card
| Symbol | DVL1 |
|---|---|
| Full Name | Dishevelled Segment Polarity Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 1855 ncbi.nlm.nih.gov/gene/1855 |
| Ensembl ID | ENSG00000107404 |
| UniProt ID | O14640 |
| OMIM ID | 601365 |
| HGNC ID | 3089 |
| Aliases | DVL, DVL1L1, DSH, MGC129851, MGC129852 |
Description
The DVL1 gene encodes dishevelled segment polarity protein 1, a cytoplasmic phosphoprotein that acts as a key mediator of Wnt signaling pathways. It is involved in both canonical (β-catenin-dependent) and non-canonical (planar cell polarity) Wnt signaling. DVL1 plays critical roles in embryonic development, cell polarity, and cell fate determination. Mutations in DVL1 are associated with autosomal dominant Robinow syndrome and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Robinow syndrome, autosomal dominant | Loss-of-function mutations in DVL1 disrupt Wnt signaling during skeletal development, leading to characteristic facial features, limb shortening, and genital abnormalities. | ClinVar, OMIM |
| Colorectal cancer | Altered DVL1 expression and subcellular localization contribute to aberrant Wnt/β-catenin signaling, promoting tumorigenesis. | COSMIC, PubMed |
| Breast cancer | DVL1 overexpression and cytoplasmic-to-nuclear translocation correlate with poor prognosis and enhanced Wnt signaling. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Embryonic kidney cells; moderate expression |
| HeLa | 7.2 | Cervical cancer cells; low expression |
| MCF7 | 14.1 | Breast cancer cells; medium expression |
| HCT116 | 18.3 | Colorectal cancer cells; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1525C>T (p.Arg509*) | Nonsense | Rare | Loss of function; associated with Robinow syndrome |
| c.1849G>A (p.Gly617Arg) | Missense | Rare | Unknown significance; reported in cancer |
| c.1234_1235insA | Frameshift | Rare | Loss of function; Robinow syndrome |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DVL1 lead to truncated or absent protein, impairing Wnt signaling and causing Robinow syndrome.
Gain of Function (GOF)
Not well characterized; some missense variants in cancer may enhance Wnt signaling, but evidence is limited.
Dominant Negative (DN)
Truncated DVL1 proteins may interfere with wild-type function in a dominant-negative manner, contributing to Robinow syndrome pathogenesis.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt/β-catenin signaling pathway (KEGG: hsa04310)
• Planar cell polarity pathway (Reactome: R-HSA-4086400)
• Wnt signaling in cancer (KEGG: hsa05200)
Protein Summary
Dishevelled segment polarity protein 1 (DVL1) is a 695-amino acid cytoplasmic protein containing three conserved domains: DIX, PDZ, and DEP. The DIX domain mediates polymerization and interaction with Axin; the PDZ domain binds Frizzled receptors and other partners; the DEP domain is involved in planar cell polarity signaling. DVL1 is phosphorylated upon Wnt stimulation and translocates to the membrane to transduce signals. It is essential for embryonic development and its dysregulation contributes to cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DVL1 Knockout HEK293 Cell Line | EDJ-KQ1189 | Human | 1855 | Details Get a Quote |
| DVL1 Knockout HeLa Cell Line | EDJ-KQ18096 | Human | 1855 | Details Get a Quote |
| DVL1 Knockout A-549 Cell Line | EDJ-KQ20470 | Human | 1855 | Details Get a Quote |
| DVL1 Knockout HCT 116 Cell Line | EDJ-KQ20471 | Human | 1855 | Details Get a Quote |
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