DAAM1: Difference between revisions
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'''Disheveled-associated activator of morphogenesis 1''' is a [[protein]] that in humans is encoded by the ''DAAM1'' [[gene]].<ref name="pmid11779461">{{cite journal | author = 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 | year = 2002 | month = Jan | pmid = 11779461 | pmc = | doi =10.1016/S0092-8674(01)00614-6 }}</ref><ref name="pmid18162551">{{cite journal | author = 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 | year = 2008 | month = Jan | pmid = 18162551 | pmc = 2224188 | doi = 10.1073/pnas.0707277105 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23002| accessdate = }}</ref> |
'''Disheveled-associated activator of morphogenesis 1''' is a [[protein]] that in humans is encoded by the ''DAAM1'' [[gene]].<ref name="pmid11779461">{{cite journal | author = 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 | year = 2002 | month = Jan | pmid = 11779461 | pmc = | doi =10.1016/S0092-8674(01)00614-6 }}</ref><ref name="pmid18162551">{{cite journal | author = 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 | year = 2008 | month = Jan | pmid = 18162551 | pmc = 2224188 | doi = 10.1073/pnas.0707277105 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23002| accessdate = }}</ref> Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined. |
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== Function == |
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| summary_text = Functions of the cell cortex, including motility, adhesion, and cytokinesis, are mediated by the reorganization of the actin cytoskeleton and recent evidence suggests a role for the Formin homology (FH) proteins in these processes. |
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| ⚫ | [[Cell motility]], [[cell adhesion|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 [[formins|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]] [[RHOA|Rho]], a key regulator of cytoskeleton architecture, to control [[cell polarity]] and movement during development. Activation requires [[Dishevelled|Dvl]]-[[RHOA|Rho]] complex formation, an assembly mediated by this gene product, which is thought to function as a scaffolding protein.<ref name="entrez">{{cite web | title = Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23002| accessdate = }}</ref> |
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==Molecular biology== |
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| ⚫ | 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 |
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| ⚫ | The deletion of a single copy of this gene has been associated with congenital heart defects.<ref name="pmid22857009">{{cite journal | author = 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 | year = 2012 | month = August | pmid = 22857009 | doi = 10.1186/1471-2350-13-63 }}</ref> |
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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 | 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 }} |
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*{{cite journal | author=Ishikawa K, Nagase T, Suyama M, ''et al.'' |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 }} |
*{{cite journal | author=Ishikawa K, Nagase T, Suyama M, ''et al.'' |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 }} |
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*{{cite journal | author=Sato A, Khadka DK, Liu W, ''et al.'' |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 }} |
*{{cite journal | author=Sato A, Khadka DK, Liu W, ''et al.'' |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 }} |
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*{{cite journal | author=Lu J, Meng W, Poy F, ''et al.'' |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 }} |
*{{cite journal | author=Lu J, Meng W, Poy F, ''et al.'' |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 }} |
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{{PDB Gallery|geneid=23002}} |
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{{gene-14-stub}} |
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Revision as of 12:28, 4 August 2012
Template:PBB 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
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
The deletion of a single copy of this gene has been associated with congenital heart defects.[4]
References
- ^ Habas R, Kato Y, He X (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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Liu W, Sato A, Khadka D, Bharti R, Diaz H, Runnels LW, Habas R (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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ a b "Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1".
- ^ Bao B, Zhang L, Hu H, Yin S, Liang Z (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. PMID 22857009.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
Further reading
- Tanaka K (2000). "Formin family proteins in cytoskeletal control". Biochem. Biophys. Res. Commun. 267 (2): 479–81. doi:10.1006/bbrc.1999.1707. PMID 10631086.
- Ishikawa K, Nagase T, Suyama M; et al. (1998). "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". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Heilig R, Eckenberg R, Petit JL; et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. doi:10.1038/nature01348. PMID 12508121.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Aspenström P, Richnau N, Johansson AS (2006). "The diaphanous-related formin DAAM1 collaborates with the Rho GTPases RhoA and Cdc42, CIP4 and Src in regulating cell morphogenesis and actin dynamics". Exp. Cell Res. 312 (12): 2180–94. doi:10.1016/j.yexcr.2006.03.013. PMID 16630611.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - Sato A, Khadka DK, Liu W; et al. (2007). "Profilin is an effector for Daam1 in non-canonical Wnt signaling and is required for vertebrate gastrulation". Development. 133 (21): 4219–31. doi:10.1242/dev.02590. PMID 17021034.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Lu J, Meng W, Poy F; et al. (2007). "Structure of the FH2 domain of Daam1: implications for formin regulation of actin assembly". J. Mol. Biol. 369 (5): 1258–69. doi:10.1016/j.jmb.2007.04.002. PMC 1939941. PMID 17482208.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link)
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