DAAM1
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Dishevelled-associated activator of morphogenesis 1 is a protein that in humans is encoded by the DAAM1 gene.{{cite journal | vauthors = Habas R, Kato Y, He X | title = Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1 | journal = Cell | volume = 107 | issue = 7 | pages = 843–54 |date=Jan 2002 | pmid = 11779461 | doi =10.1016/S0092-8674(01)00614-6 | doi-access = free }}{{cite journal | vauthors = Liu W, Sato A, Khadka D, Bharti R, Diaz H, Runnels LW, Habas R | title = Mechanism of activation of the Formin protein Daam1 | journal = Proc Natl Acad Sci U S A | volume = 105 | issue = 1 | pages = 210–5 |date=Jan 2008 | pmid = 18162551 | pmc = 2224188 | doi = 10.1073/pnas.0707277105 | bibcode = 2008PNAS..105..210L | doi-access = free }}{{cite web | title = Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23002}} 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.{{cite journal | vauthors = Bao B, Zhang L, Hu H, Yin S, Liang Z | title = Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report | journal = BMC Med. Genet. | volume = 13 | issue = 1 | pages = 63 |date=August 2012 | pmid = 22857009 | doi = 10.1186/1471-2350-13-63 | pmc=3482563 | doi-access = free }}
References
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Further reading
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- {{cite journal | author=Tanaka K |title=Formin family proteins in cytoskeletal control. |journal=Biochem. Biophys. Res. Commun. |volume=267 |issue= 2 |pages= 479–81 |year= 2000 |pmid= 10631086 |doi= 10.1006/bbrc.1999.1707 }}
- {{cite journal | vauthors=Ishikawa K, Nagase T, Suyama M |title=Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–76 |year= 1998 |pmid= 9734811 |doi=10.1093/dnares/5.3.169 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Heilig R, Eckenberg R, Petit JL |title=The DNA sequence and analysis of human chromosome 14. |journal=Nature |volume=421 |issue= 6923 |pages= 601–7 |year= 2003 |pmid= 12508121 |doi= 10.1038/nature01348 |bibcode=2003Natur.421..601H |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
- {{cite journal | vauthors=Aspenström P, Richnau N, Johansson AS |title=The diaphanous-related formin DAAM1 collaborates with the Rho GTPases RhoA and Cdc42, CIP4 and Src in regulating cell morphogenesis and actin dynamics. |journal=Exp. Cell Res. |volume=312 |issue= 12 |pages= 2180–94 |year= 2006 |pmid= 16630611 |doi= 10.1016/j.yexcr.2006.03.013 }}
- {{cite journal | vauthors=Sato A, Khadka DK, Liu W |title=Profilin is an effector for Daam1 in non-canonical Wnt signaling and is required for vertebrate gastrulation. |journal=Development |volume=133 |issue= 21 |pages= 4219–31 |year= 2007 |pmid= 17021034 |doi= 10.1242/dev.02590 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Lu J, Meng W, Poy F |title=Structure of the FH2 domain of Daam1: implications for formin regulation of actin assembly. |journal=J. Mol. Biol. |volume=369 |issue= 5 |pages= 1258–69 |year= 2007 |pmid= 17482208 |doi= 10.1016/j.jmb.2007.04.002 | pmc=1939941 |display-authors=etal}}
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{{PDB Gallery|geneid=23002}}
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