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

Gene ID: 23002, updated on 6-Jan-2019

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

Genomic context

See DAAM1 in Genome Data Viewer
Location:
14q23.1
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (59188657..59371405)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59655329..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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystem (from WikiPathways)
    Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystemThis pathway is based on Figure 8 of "Mapping drug physico-chemical features to pathway activity reveals molecular networks linked to toxicity outcome."(See bibliography). These 3 pathways demonstr...
  • Beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
    Beta-catenin independent WNT signaling, organism-specific biosystemHumans and mice have 19 identified WNT proteins that were originally classified as either 'canonical' or 'non-canonical' depending upon whether they were able to transform the mouse mammary epithelia...
  • Noncanonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Noncanonical Wnt signaling pathway, organism-specific biosystem
    Noncanonical Wnt signaling pathway
  • PCP/CE pathway, organism-specific biosystem (from REACTOME)
    PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...

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
Rho GTPase binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Wnt signaling pathway, planar cell polarity pathway NAS
Non-traceable Author Statement
more info
PubMed 
Wnt signaling pathway, planar cell polarity pathway TAS
Traceable Author Statement
more info
 
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
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)

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
    5053..187795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270520.1NP_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, ENST00000360909.7
    Conserved Domains (4) summary
    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
    cl25602
    Location:444513
    DUF3552; Domain of unknown function (DUF3552)
  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
    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
    cl25602
    Location:444513
    DUF3552; Domain of unknown function (DUF3552)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 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
    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
    cl25602
    Location:444513
    DUF3552; Domain of unknown function (DUF3552)
  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
    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
    cl25602
    Location:444513
    DUF3552; Domain of unknown function (DUF3552)
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