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
Gene location (Human)
Chr.	Chromosome 14 (human)
End	59,371,405 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	72,039,107 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; retinal pigment epithelium; ; nipple; ; human penis; ; vulva; ; saphenous vein; ; hair follicle; ; myocardium; ; right coronary artery;
	Top expressed in
	otolith organ; ; utricle; ; ciliary body; ; atrioventricular valve; ; secondary oocyte; ; hand; ; iris; ; retinal pigment epithelium; ; superior cervical ganglion; ; left lung lobe;
	More reference expression data
	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
	23002
	208846
	ENSG00000100592
	ENSMUSG00000034574
	Q9Y4D1
	Q8BPM0
	NM_001270520 ; NM_014992
	NM_001286452 ; NM_026102 ; NM_172464
	NP_001257449 ; NP_055807
	NP_001273381 ; NP_080378 ; NP_766052
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated December 03, 2023

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]

Related Research Articles

The Wnt signaling pathways are a group of signal transduction pathways which begin with proteins that pass signals into a cell through cell surface receptors. The name Wnt is a portmanteau created from the names Wingless and Int-1. Wnt signaling pathways use either nearby cell-cell communication (paracrine) or same-cell communication (autocrine). They are highly evolutionarily conserved in animals, which means they are similar across animal species from fruit flies to humans.

The Rho family of GTPases is a family of small signaling G proteins, and is a subfamily of the Ras superfamily. The members of the Rho GTPase family have been shown to regulate many aspects of intracellular actin dynamics, and are found in all eukaryotic kingdoms, including yeasts and some plants. Three members of the family have been studied in detail: Cdc42, Rac1, and RhoA. All G proteins are "molecular switches", and Rho proteins play a role in organelle development, cytoskeletal dynamics, cell movement, and other common cellular functions.

Transforming protein RhoA, also known as Ras homolog family member A (RhoA), is a small GTPase protein in the Rho family of GTPases that in humans is encoded by the RHOA gene. While the effects of RhoA activity are not all well known, it is primarily associated with cytoskeleton regulation, mostly actin stress fibers formation and actomyosin contractility. It acts upon several effectors. Among them, ROCK1 and DIAPH1 are the best described. RhoA, and the other Rho GTPases, are part of a larger family of related proteins known as the Ras superfamily, a family of proteins involved in the regulation and timing of cell division. RhoA is one of the oldest Rho GTPases, with homologues present in the genomes since 1.5 billion years. As a consequence, RhoA is somehow involved in many cellular processes which emerged throughout evolution. RhoA specifically is regarded as a prominent regulatory factor in other functions such as the regulation of cytoskeletal dynamics, transcription, cell cycle progression and cell transformation.

RhoC is a small signaling G protein, and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RHOC.

Segment polarity protein dishevelled homolog DVL-1 is a protein that in humans is encoded by the DVL1 gene.

Rho-related GTP-binding protein RhoQ is a protein that in humans is encoded by the RHOQ gene.

Deleted in Liver Cancer 1 also known as DLC1 and StAR-related lipid transfer protein 12 (STARD12) is a protein which in humans is encoded by the DLC1 gene.

Formin-binding protein 1 is a protein that in humans is encoded by the FNBP1 gene.

Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene.

Segment polarity protein dishevelled homolog DVL-2 is a protein that in humans is encoded by the DVL2 gene.

Rnd3 is a small signaling G protein, and is a member of the Rnd subgroup of the Rho family of GTPases. It is encoded by the gene RND3.

RhoD is a small signaling G protein, and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RHOD.

Guanine nucleotide exchange factor VAV3 is a protein that in humans is encoded by the VAV3 gene.

Formin-binding protein 1-like is a protein that in humans is encoded by the FNBP1L gene.

SLIT-ROBO Rho GTPase-activating protein 3 is an enzyme that in humans is encoded by the SRGAP3 gene.

FYVE, RhoGEF and PH domain-containing protein 4 is a protein that in humans is encoded by the FGD4 gene.

SLIT-ROBO Rho GTPase-activating protein 1 is an enzyme that in humans is encoded by the SRGAP1 gene.

Rho-related BTB domain-containing protein 1 is a protein that in humans is encoded by the RHOBTB1 gene.

Formin-like protein 2 is a protein that in humans is encoded by the FMNL2 gene.

Dishevelled (Dsh) is a family of proteins involved in canonical and non-canonical Wnt signalling pathways. Dsh is a cytoplasmic phosphoprotein that acts directly downstream of frizzled receptors. It takes its name from its initial discovery in flies, where a mutation in the dishevelled gene was observed to cause improper orientation of body and wing hairs. There are vertebrate homologs in zebrafish, Xenopus (Xdsh), mice and humans. Dsh relays complex Wnt signals in tissues and cells, in normal and abnormal contexts. It is thought to interact with the SPATS1 protein when regulating the Wnt Signalling pathway.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000100592 - Ensembl, May 2017
1 2 3 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.
1 2 "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.

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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000100592 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid11779461-5] 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.

[pmid18162551-6] 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.

[entrez-7] 1 2 "Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1".

[pmid22857009-8] 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.

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DAAM1

Contents

Function

Clinical significance

Related Research Articles

References

Further reading