DAAM1: Dishevelled Associated Activator of Morphogenesis 1
A key regulator of actin cytoskeleton dynamics and planar cell polarity signaling
Gene Information Card
| Symbol | DAAM1 |
|---|---|
| Full Name | Dishevelled Associated Activator of Morphogenesis 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q23.1 |
| NCBI Gene ID | 23002 ncbi.nlm.nih.gov/gene/23002 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9Y4D1 |
| OMIM ID | 606626 |
| HGNC ID | 18143 |
| Aliases | KIAA0666, FLJ41695 |
Description
DAAM1 (Dishevelled Associated Activator of Morphogenesis 1) is a protein-coding gene that encodes a member of the formin family of actin-nucleating proteins. It acts as a downstream effector of the Wnt/planar cell polarity (PCP) pathway by binding to Dishevelled (DVL) and promoting the assembly of linear actin filaments. DAAM1 is involved in cytoskeletal reorganization, cell migration, and tissue morphogenesis during embryonic development. Dysregulation of DAAM1 has been implicated in cancer progression, neurodevelopmental disorders, and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | DAAM1 overexpression promotes actin polymerization and cell migration, contributing to invasion and metastasis. | COSMIC; PMID: 25691885 |
| Neurodevelopmental disorders | DAAM1 mutations may disrupt Wnt/PCP signaling, affecting neuronal migration and axon guidance. | ClinVar; PMID: 27545674 |
| Ciliopathies | DAAM1 regulates actin dynamics at the base of cilia; defects impair ciliogenesis. | UniProt; PMID: 22952844 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 15.7 | Medium |
| Liver | 6.2 | Low |
| Kidney | 10.1 | Medium |
| Testis | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK 293 | 11.5 | Embryonic kidney cells |
| A549 | 9.8 | Lung carcinoma |
| MCF7 | 7.3 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.567_569del (p.Lys189del) | In-frame deletion | <0.01% | May affect actin binding |
| c.2101G>A (p.Gly701Arg) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DAAM1 are rare and may impair actin polymerization, leading to defects in cell migration and morphogenesis.
Gain of Function (GOF)
Gain-of-function mutations have not been clearly documented; overexpression in cancer suggests potential oncogenic activity.
Dominant Negative (DN)
Dominant-negative effects are hypothesized for certain missense variants that disrupt formin dimerization or Dishevelled binding.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • actin filament polymerization |
| • cell morphogenesis | • Wnt signaling pathway |
| • planar cell polarity pathway | • rho protein signal transduction |
| • actin binding | • formin activity |
Pathways
• Wnt/planar cell polarity (PCP) signaling
• Rho GTPase signaling
• Actin nucleation by formins
Protein Summary
DAAM1 is a 1078-amino acid formin protein that contains a formin homology 2 (FH2) domain responsible for actin nucleation and a formin homology 1 (FH1) domain that binds profilin. It interacts with Dishevelled via its N-terminal region, linking Wnt/PCP signaling to cytoskeletal remodeling. DAAM1 is widely expressed in adult tissues and is essential for gastrulation, neural tube closure, and heart development in animal models. Its dysregulation contributes to tumor invasion and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAAM1 Knockout HEK293 Cell Line | EDJ-KQ292 | Human | 23002 | Details Get a Quote |
| DAAM1 Knockout A-549 Cell Line | EDJ-KQ18405 | Human | 23002 | Details Get a Quote |
| DAAM1 Knockout HCT 116 Cell Line | EDJ-KQ18406 | Human | 23002 | Details Get a Quote |
| DAAM1 Knockout HeLa Cell Line | EDJ-KQ18407 | Human | 23002 | Details Get a Quote |
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