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DAAM1 dishevelled associated activator of morphogenesis 1 [ Homo sapiens (human) ]

Gene ID: 23002, updated on 3-Nov-2024

Summary

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Official Symbol
DAAM1provided by HGNC
Official Full Name
dishevelled associated activator of morphogenesis 1provided by HGNC
Primary source
HGNC:HGNC:18142
See related
Ensembl:ENSG00000100592 MIM:606626; AllianceGenome:HGNC:18142
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in skin (RPKM 17.9), esophagus (RPKM 12.9) and 25 other tissues See more
Orthologs
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Genomic context

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See DAAM1 in Genome Data Viewer
Location:
14q23.1
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (59188667..59371405)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53395543..53578348)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59655385..59838123)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene aldo-keto reductase family 1 member B1 pseudogene 5 Neighboring gene uncharacterized LOC107984642 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5803 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59655908-59656667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8458 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34577 Neighboring gene peptidylprolyl isomerase A pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 14842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8459 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59797736-59798544 Neighboring gene NANOG hESC enhancer GRCh37_chr14:59862330-59862839 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8460 Neighboring gene G protein-coupled receptor 135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8461 Neighboring gene uncharacterized LOC124903326 Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Human neuroglial cells internalize Borrelia burgdorferi by coiling phagocytosis mediated by Daam1. Williams SK, et al. PLoS One, 2018. PMID 29746581, Free PMC Article
  2. Integrin αvβ3-associated DAAM1 is essential for collagen-induced invadopodia extension and cell haptotaxis in breast cancer cells. Yan T, et al. J Biol Chem, 2018 Jun 29. PMID 29752407, Free PMC Article
  3. Structure of the FH2 domain of Daam1: implications for formin regulation of actin assembly. Lu J, et al. J Mol Biol, 2007 Jun 22. PMID 17482208, Free PMC Article
  4. Crystal structure of human DAAM1 formin homology 2 domain. Yamashita M, et al. Genes Cells, 2007 Nov. PMID 17986009
  5. Activation of the planar cell polarity formin DAAM1 leads to inhibition of endothelial cell proliferation, migration, and angiogenesis. Ju R, et al. Proc Natl Acad Sci U S A, 2010 Apr 13. PMID 20351293, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Formin Binding Protein 1 (FNBP1) regulates non-canonical Wnt signaling and vertebrate gastrulation.
    Title: Formin Binding Protein 1 (FNBP1) regulates non-canonical Wnt signaling and vertebrate gastrulation.
  2. The formin DAAM1 regulates the deubiquitinase activity of USP10 and integrin homeostasis.
    Title: The formin DAAM1 regulates the deubiquitinase activity of USP10 and integrin homeostasis.
  3. Disheveled-associated activator of morphogenesis 2 promotes invasion of colorectal cancer by activating PAK1 and promoting MMP7 expression.
    Title: Disheveled-associated activator of morphogenesis 2 promotes invasion of colorectal cancer by activating PAK1 and promoting MMP7 expression.
  4. Preliminary Investigation on the Involvement of Cytoskeleton-Related Proteins, DAAM1 and PREP, in Human Testicular Disorders.
    Title: Preliminary Investigation on the Involvement of Cytoskeleton-Related Proteins, DAAM1 and PREP, in Human Testicular Disorders.
  5. SNHG15 facilitated malignant behaviors of oral squamous cell carcinoma through targeting miR-188-5p/DAAM1.
    Title: SNHG15 facilitated malignant behaviors of oral squamous cell carcinoma through targeting miR-188-5p/DAAM1.
  6. Dishevelled Associated Activator Of Morphogenesis (DAAM) Facilitates Invasion of Hepatocellular Carcinoma by Upregulating Hypoxia-Inducible Factor 1alpha (HIF-1alpha) Expression.
    Title: Dishevelled Associated Activator Of Morphogenesis (DAAM) Facilitates Invasion of Hepatocellular Carcinoma by Upregulating Hypoxia-Inducible Factor 1α (HIF-1α) Expression.
  7. DAAM1 and PREP are involved in human spermatogenesis.
    Title: DAAM1 and PREP are involved in human spermatogenesis.
  8. Overexpressed DAAM1 correlates with metastasis and predicts poor prognosis in breast cancer.
    Title: Overexpressed DAAM1 correlates with metastasis and predicts poor prognosis in breast cancer.
  9. Wnt5a/ROR1 activates DAAM1 and promotes the migration in osteosarcoma cells.
    Title: Wnt5a/ROR1 activates DAAM1 and promotes the migration in osteosarcoma cells.
  10. findings reveal a novel mechanism by which reversible tyrosine phosphorylation of DAAM1 by Src and PTPN3 regulates actin dynamics and lung cancer invasivenes
    Title: PTPN3 suppresses lung cancer cell invasiveness by counteracting Src-mediated DAAM1 activation and actin polymerization.
Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41657, KIAA0666

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Wnt signaling pathway, planar cell polarity pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in presynaptic actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in stress fiber IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in stress fiber IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
disheveled-associated activator of morphogenesis 1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_047127.1 RefSeqGene

    Range
    5057..187793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270520.2 → NP_001257449.1  disheveled-associated activator of morphogenesis 1 isoform 2

    See identical proteins and their annotated locations for NP_001257449.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, and encodes a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AL133502, AL159140, BC064999, BP199650
    Consensus CDS
    CCDS58323.1
    UniProtKB/TrEMBL
    A8K6X5
    Related
    ENSP00000354162.3, ENST00000360909.8
    Conserved Domains (4) summary
    PRK12704
    Location:444 → 513
    PRK12704; phosphodiesterase; Provisional
    pfam02181
    Location:600 → 974
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:235 → 439
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:45 → 232
    Drf_GBD; Diaphanous GTPase-binding Domain

  2. NM_014992.2 → NP_055807.1  disheveled-associated activator of morphogenesis 1 isoform 1

    See identical proteins and their annotated locations for NP_055807.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB014566, AL133502, AL159140, BP199650
    Consensus CDS
    CCDS9737.1
    UniProtKB/Swiss-Prot
    Q86U34, Q8N1Z8, Q8TB39, Q9Y4D1
    UniProtKB/TrEMBL
    A8K6X5
    Related
    ENSP00000378557.1, ENST00000395125.1
    Conserved Domains (4) summary
    PRK12704
    Location:444 → 513
    PRK12704; phosphodiesterase; Provisional
    pfam02181
    Location:600 → 984
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:235 → 439
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:45 → 232
    Drf_GBD; Diaphanous GTPase-binding Domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    59188667..59371405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267431.2 → XP_005267488.1  disheveled-associated activator of morphogenesis 1 isoform X1

    See identical proteins and their annotated locations for XP_005267488.1

    UniProtKB/Swiss-Prot
    Q86U34, Q8N1Z8, Q8TB39, Q9Y4D1
    UniProtKB/TrEMBL
    A8K6X5
    Conserved Domains (4) summary
    PRK12704
    Location:444 → 513
    PRK12704; phosphodiesterase; Provisional
    pfam02181
    Location:600 → 984
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:235 → 439
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:45 → 232
    Drf_GBD; Diaphanous GTPase-binding Domain

  2. XM_047431135.1 → XP_047287091.1  disheveled-associated activator of morphogenesis 1 isoform X2

  3. XM_005267430.3 → XP_005267487.1  disheveled-associated activator of morphogenesis 1 isoform X1

    See identical proteins and their annotated locations for XP_005267487.1

    UniProtKB/Swiss-Prot
    Q86U34, Q8N1Z8, Q8TB39, Q9Y4D1
    UniProtKB/TrEMBL
    A8K6X5
    Conserved Domains (4) summary
    PRK12704
    Location:444 → 513
    PRK12704; phosphodiesterase; Provisional
    pfam02181
    Location:600 → 984
    FH2; Formin Homology 2 Domain
    pfam06367
    Location:235 → 439
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:45 → 232
    Drf_GBD; Diaphanous GTPase-binding Domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    53395543..53578348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375647.1 → XP_054231622.1  disheveled-associated activator of morphogenesis 1 isoform X1

    UniProtKB/Swiss-Prot
    Q86U34, Q8N1Z8, Q8TB39, Q9Y4D1

  2. XM_054375648.1 → XP_054231623.1  disheveled-associated activator of morphogenesis 1 isoform X2

  3. XM_054375646.1 → XP_054231621.1  disheveled-associated activator of morphogenesis 1 isoform X1

    UniProtKB/Swiss-Prot
    Q86U34, Q8N1Z8, Q8TB39, Q9Y4D1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y4D1.2 GenPept UniProtKB/Swiss-Prot:Q9Y4D1

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