Human Gene DACT1 (ENST00000395153.8_5) from GENCODE V47lift37
  Description: dishevelled binding antagonist of beta catenin 1, transcript variant 2 (from RefSeq NM_001079520.2)
Gencode Transcript: ENST00000395153.8_5
Gencode Gene: ENSG00000165617.16_12
Transcript (Including UTRs)
   Position: hg19 chr14:59,104,680-59,115,039 Size: 10,360 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr14:59,104,921-59,113,852 Size: 8,932 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:59,104,680-59,115,039)mRNA (may differ from genome)Protein (799 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DACT1_HUMAN
DESCRIPTION: RecName: Full=Dapper homolog 1; Short=hDPR1; AltName: Full=Dapper antagonist of catenin 1; AltName: Full=Hepatocellular carcinoma novel gene 3 protein;
FUNCTION: Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizing CTNNB1 may involve inhibition of GSK3B activity. Promotes the membrane localization of CTNNB1. The cytoplasmic form can induce DVL2 degradation via a lysosome- dependent mechanism; the function is inhibited by PKA-induced binding to 14-3-3 proteins, such as YWHAB. Seems to be involved in morphogenesis at the primitive streak by regulating VANGL2 and DVL2; the function seems to be independent of canonical Wnt signaling and rather involves the non-canonical Wnt/planar cell polarity (PCP) pathway (By similarity). The nuclear form may prevent the formation of LEF1:CTNNB1 complex and recruit HDAC1 to LEF1 at target gene promoters to repress transcription thus antagonizing Wnt signaling. May be involved in positive regulation of fat cell differentiation. During neuronal differentiation may be involved in excitatory synapse organization, and dendrite formation and establishment of spines.
SUBUNIT: Can form homodimers and heterodimers with DACT2 or DACT3. Interacts with CSNK1D, PKA catalytic subunit, PKC-type kinase, CSNK2A1, CSNK2B, DVL1, DVL3, VANGL1, VANGL2, CTNND1 and HDAC1 (By similarity). Interacts with DVL2. Interacts with YWHAB; the interaction is enhanced by PKA phosphorylating DACT1 at Ser-237 and Ser-827. Interacts with CTNNB1 and HDAC1. Interacts with GSK3B; the interaction is indicative for an association of DACT1 with the beta-catenin destruction complex. Interacts with GSK3A.
INTERACTION: P35222:CTNNB1; NbExp=3; IntAct=EBI-3951744, EBI-491549; O14641:DVL2; NbExp=6; IntAct=EBI-3951744, EBI-740850; P49841:GSK3B; NbExp=3; IntAct=EBI-3951744, EBI-373586; P31946:YWHAB; NbExp=4; IntAct=EBI-3951744, EBI-359815;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell junction, synapse (By similarity). Note=Shuttles between the nucleus and the cytoplasm. Seems to be nuclear in the absence of Wnt signaling and to translocate to the cytoplasm in its presence.
DOMAIN: The C-terminal PDZ-binding motif mediates interaction with the PDZ domains of DSH (Dishevelled) family proteins (By similarity).
DISEASE: Defects in DACT1 may be a cause of susceptibility to neural tube defects (NTD) [MIM:182940]. NTD are congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
SIMILARITY: Belongs to the dapper family.
SEQUENCE CAUTION: Sequence=AAF65569.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD61905.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Dapper antagonist of beta-catenin homolog 1 (Xenopus laevis) (DACT1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/DACT1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DACT1
Diseases sorted by gene-association score: townes-brocks syndrome 2* (950), craniorachischisis* (350), occipital encephalocele* (350), townes-brocks syndrome* (258), neural tube defects* (122), esophageal basaloid squamous cell carcinoma (9), myelomeningocele (8), anencephaly (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.75 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 187.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -134.10241-0.556 Picture PostScript Text
3' UTR -294.101187-0.248 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024848 - Dact1
IPR024843 - Dapper

Pfam Domains:
PF15268 - Dapper

ModBase Predicted Comparative 3D Structure on Q9NYF0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001085 RNA polymerase II transcription factor binding
GO:0005080 protein kinase C binding
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0042826 histone deacetylase binding
GO:0051018 protein kinase A binding
GO:0070097 delta-catenin binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0016055 Wnt signaling pathway
GO:0021915 neural tube development
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030178 negative regulation of Wnt signaling pathway
GO:0031647 regulation of protein stability
GO:0032091 negative regulation of protein binding
GO:0032092 positive regulation of protein binding
GO:0045732 positive regulation of protein catabolic process
GO:0046329 negative regulation of JNK cascade
GO:0048619 embryonic hindgut morphogenesis
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1903364 positive regulation of cellular protein catabolic process
GO:1904864 negative regulation of beta-catenin-TCF complex assembly
GO:2000095 regulation of Wnt signaling pathway, planar cell polarity pathway
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
GO:1900107 regulation of nodal signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030054 cell junction
GO:0045202 synapse
GO:0030877 beta-catenin destruction complex


-  Descriptions from all associated GenBank mRNAs
  AK316237 - Homo sapiens cDNA, FLJ79136 complete cds, highly similar to Dapper homolog 1.
BX161433 - human full-length cDNA clone CS0DI011YG12 of Placenta of Homo sapiens (human).
AB385249 - Synthetic construct DNA, clone: pF1KB9495, Homo sapiens DACT1 gene for dapper homolog 1, complete cds, without stop codon, in Flexi system.
BC172261 - Synthetic construct Homo sapiens clone IMAGE:100068955, MGC:198966 dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1) mRNA, encodes complete protein.
BC172563 - Synthetic construct Homo sapiens clone IMAGE:100069257, MGC:199268 dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1) mRNA, encodes complete protein.
AK299879 - Homo sapiens cDNA FLJ51077 complete cds, highly similar to Dapper homolog 1.
AK316164 - Homo sapiens cDNA, FLJ79063 complete cds, highly similar to Dapper homolog 1.
AK316423 - Homo sapiens cDNA, FLJ79322 complete cds, highly similar to Dapper homolog 1.
AK316169 - Homo sapiens cDNA, FLJ79068 complete cds, highly similar to Dapper homolog 1.
AF251079 - Homo sapiens heptacellular carcinoma novel gene-3 protein mRNA, complete cds.
JD174080 - Sequence 155104 from Patent EP1572962.
JD046737 - Sequence 27761 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NYF0 (Reactome details) participates in the following event(s):

R-HSA-4641147 DACT1 binds DVL2
R-HSA-4641258 Degradation of DVL
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8MYJ2, DACT1_HUMAN, DPR1, ENST00000395153.1, ENST00000395153.2, ENST00000395153.3, ENST00000395153.4, ENST00000395153.5, ENST00000395153.6, ENST00000395153.7, HNG3, NM_001079520, Q86TY0, Q9NYF0, uc318xez.1, uc318xez.2
UCSC ID: ENST00000395153.8_5
RefSeq Accession: NM_001079520.2
Protein: Q9NYF0 (aka DACT1_HUMAN or DAC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.