DAAM1

DAAM1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2J1D, 2Z6E
Identifiers
Aliases	DAAM1 , dishevelled associated activator of morphogenesis 1
External IDs	OMIM: 606626; MGI: 1914596; HomoloGene: 36635; GeneCards: DAAM1; OMA:DAAM1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q23.1 Start 59,188,646 bp [1] End 59,371,405 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 C3 Start 71,877,852 bp [2] End 72,039,107 bp [2]
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 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 [3] [4]
Wikidata
View/Edit Human View/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. 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

• 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.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Heilig R, Eckenberg R, Petit JL, et al. (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. Bibcode:2003Natur.421..601H. doi: 10.1038/nature01348 . PMID   12508121.
• 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.
• 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.
• 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.
• 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.
• 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.