DAAM1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDAAM1, dishevelled associated activator of morphogenesis 1
External IDsOMIM: 606626 MGI: 1914596 HomoloGene: 36635 GeneCards: DAAM1
Orthologs
SpeciesHumanMouse
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 MbChr 12: 71.88 – 72.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dishevelled-associated activator of morphogenesis 1 is a protein that in humans is encoded by the DAAM1 gene.[5][6][7] 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.[7]

Clinical significance

The deletion of a single copy of this gene has been associated with congenital heart defects.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000100592 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034574 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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. Bibcode:2008PNAS..105..210L. doi:10.1073/pnas.0707277105. PMC 2224188. PMID 18162551.
  7. 1 2 "Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1".
  8. 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


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