Protein-coding gene in the species Homo sapiens
| DAAM1 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| List of PDB id codes |
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2J1D, 2Z6E |
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| Identifiers |
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| Aliases | DAAM1, dishevelled associated activator of morphogenesis 1 |
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| External IDs | OMIM: 606626; MGI: 1914596; HomoloGene: 36635; GeneCards: DAAM1; OMA:DAAM1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 14 (human)[1] |
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| | Band | 14q23.1 | Start | 59,188,646 bp[1] |
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| End | 59,371,405 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 12 (mouse)[2] |
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| | Band | 12|12 C3 | Start | 71,877,852 bp[2] |
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| End | 72,039,107 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - oocyte
- secondary oocyte
- retinal pigment epithelium
- nipple
- skin of arm
- human penis
- skin of thigh
- skin of hip
- vulva
- saphenous vein
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| | Top expressed in | - otolith organ
- utricle
- ciliary body
- atrioventricular valve
- secondary oocyte
- epithelium of lens
- primary oocyte
- zygote
- hand
- iris
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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NM_001286452
NM_026102
NM_172464 |
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| RefSeq (protein) | | |
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NP_001273381
NP_080378
NP_766052 |
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| Location (UCSC) | Chr 14: 59.19 – 59.37 Mb | Chr 12: 71.88 – 72.04 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100592 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034574 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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.
- ^ a b "Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1".
- ^ 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.
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2j1d: CRYSTALLIZATION OF HDAAM1 C-TERMINAL FRAGMENT
