DAAM1

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.

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

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. GRCh38: Ensembl release 89: ENSG00000100592 - Ensembl, May 2017
  2. 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. "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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.