DAAM1

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Dishevelled associated activator of morphogenesis 1
Protein DAAM1 PDB 2j1d.png
PDB rendering based on 2j1d.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols DAAM1 ; FLJ41657; KIAA0666
External IDs OMIM606626 MGI1914596 HomoloGene36635 GeneCards: DAAM1 Gene
RNA expression pattern
PBB GE DAAM1 216060 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23002 208846
Ensembl ENSG00000100592 ENSMUSG00000034574
UniProt Q9Y4D1 Q8BPM0
RefSeq (mRNA) NM_001270520 NM_001286452
RefSeq (protein) NP_001257449 NP_001273381
Location (UCSC) Chr 14:
59.66 – 59.84 Mb
Chr 12:
71.83 – 71.99 Mb
PubMed search [1] [2]

Disheveled-associated activator of morphogenesis 1 is a protein that in humans is encoded by the DAAM1 gene.[1][2][3] Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined.

Function[edit]

Cell motility, adhesion, and cytokinesis, and other functions of the cell cortex are mediated by the reorganization of the actin cytoskeleton and recent evidence suggests a role for formin homology (FH) proteins in these processes. The protein encoded by this gene contains FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. Wnt/Fz signaling activates the small GTPase Rho, a key regulator of cytoskeleton architecture, to control cell polarity and movement during development. Activation requires Dvl-Rho complex formation, an assembly mediated by this gene product, which is thought to function as a scaffolding protein.[3]

Clinical significance[edit]

The deletion of a single copy of this gene has been associated with congenital heart defects.[4]

References[edit]

  1. ^ Habas R, Kato Y, He X (Jan 2002). "Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1". Cell 107 (7): 843–54. doi:10.1016/S0092-8674(01)00614-6. PMID 11779461. 
  2. ^ Liu W, Sato A, Khadka D, Bharti R, Diaz H, Runnels LW, Habas R (Jan 2008). "Mechanism of activation of the Formin protein Daam1". Proc Natl Acad Sci U S A 105 (1): 210–5. doi:10.1073/pnas.0707277105. PMC 2224188. PMID 18162551. 
  3. ^ a b "Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1". 
  4. ^ Bao B, Zhang L, Hu H, Yin S, Liang Z (August 2012). "Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report". BMC Med. Genet. 13 (1): 63. doi:10.1186/1471-2350-13-63. PMC 3482563. PMID 22857009. 

Further reading[edit]