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

    Gene ID: 23002, updated on 27-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
    mouse all
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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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