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

    Gene ID: 23002, updated on 19-Sep-2021

    Summary

    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
    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

    See DAAM1 in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (59188657..59371405)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59655385..59838123)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984642 Neighboring gene aldo-keto reductase family 1 member B1 pseudogene 5 Neighboring gene peptidylprolyl isomerase A pseudogene 5 Neighboring gene G protein-coupled receptor 135 Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein Neighboring gene coiled-coil domain containing 175

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 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 membrane HDA PubMed 
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    is_active_in stress fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    disheveled-associated activator of morphogenesis 1

    NCBI Reference Sequences (RefSeq)

    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_001270520.2NP_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/Swiss-Prot
      Q9Y4D1
      Related
      ENSP00000354162.3, ENST00000360909.8
      Conserved Domains (4) summary
      PRK12704
      Location:444513
      PRK12704; phosphodiesterase; Provisional
      pfam02181
      Location:600974
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:235439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:45232
      Drf_GBD; Diaphanous GTPase-binding Domain
    2. NM_014992.2NP_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
      Q9Y4D1
      Related
      ENSP00000378557.1, ENST00000395125.1
      Conserved Domains (4) summary
      PRK12704
      Location:444513
      PRK12704; phosphodiesterase; Provisional
      pfam02181
      Location:600984
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:235439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:45232
      Drf_GBD; Diaphanous GTPase-binding Domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      59188657..59371405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_005267488.1

      UniProtKB/Swiss-Prot
      Q9Y4D1
      Conserved Domains (4) summary
      PRK12704
      Location:444513
      PRK12704; phosphodiesterase; Provisional
      pfam02181
      Location:600984
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:235439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:45232
      Drf_GBD; Diaphanous GTPase-binding Domain
    2. XM_005267430.2XP_005267487.1  disheveled-associated activator of morphogenesis 1 isoform X1

      See identical proteins and their annotated locations for XP_005267487.1

      UniProtKB/Swiss-Prot
      Q9Y4D1
      Conserved Domains (4) summary
      PRK12704
      Location:444513
      PRK12704; phosphodiesterase; Provisional
      pfam02181
      Location:600984
      FH2; Formin Homology 2 Domain
      pfam06367
      Location:235439
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:45232
      Drf_GBD; Diaphanous GTPase-binding Domain
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