DAAM1

DAAM1
Identifiers
Aliases	DAAM1, dishevelled associated activator of morphogenesis 1
External IDs	OMIM: 606626; MGI: 1914596; GeneCards: DAAM1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2J1D, 2Z6E
Gene location (Human) Chr. Chromosome 14 (human) Band 14q23.1 Start 59,188,646 bp End 59,371,405 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 C3 Start 71,877,852 bp End 72,039,107 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte retinal pigment epithelium nipple skin of arm human penis skin of thigh skin of hip vulva saphenous vein Top expressed in otolith organ utricle ciliary body atrioventricular valve secondary oocyte epithelium of lens primary oocyte zygote hand iris More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding protein binding identical protein binding Cellular component plasma membrane membrane stress fiber ciliary basal body motile cilium cytoplasm cytosol cytoskeleton cell projection Biological process actin cytoskeleton organization cellular component organization Wnt signaling pathway, planar cell polarity pathway Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 23002 208846 Ensembl ENSG00000100592 ENSMUSG00000034574 UniProt Q9Y4D1 Q8BPM0 RefSeq (mRNA) NM_001270520 NM_014992 NM_001286452 NM_026102 NM_172464 RefSeq (protein) NP_001257449 NP_055807 NP_001273381 NP_080378 NP_766052 Location (UCSC) Chr 14: 59.19 – 59.37 Mb Chr 12: 71.88 – 72.04 Mb PubMed search
Wikidata
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Dishevelled-associated activator of morphogenesis 1 is a protein that in humans is encoded by the DAAM1 gene. Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined.

Function

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.

Clinical significance

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