DACT1

Gene Information
 
Gene Symbol
DACT1
 
Aliases
DAPPER, DAPPER1, DPR1, FRODO, HDPR1, TBS2, THYEX3
 
Entrez Gene ID
 
Gene Name
Dishevelled binding antagonist of beta catenin 1
 
Chromosomal Location
14q23.1
 
HGNC ID
 
Summary
The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000122 Biological process Negative regulation of transcription by RNA polymerase II IDA 18936100
GO:0021915 Biological process Neural tube development IMP 22610794
GO:0030111 Biological process Regulation of Wnt signaling pathway IBA 21873635
GO:0030177 Biological process Positive regulation of Wnt signaling pathway IDA 21262972
GO:0030178 Biological process Negative regulation of Wnt signaling pathway IDA 16446366, 17197390
Protein Information
 
Protein Name
Dapper homolog 1, dapper antagonist of catenin 1, dapper, antagonist of beta-catenin, homolog 1, hepatocellular carcinoma novel gene 3 protein, heptacellular carcinoma novel gene 3
 
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.
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF15268 Dapper
Pathways
 
Reactome
 

 

Degradation of DVL

Interactions
 
STRING MINT IntAct
ENSP00000221847 Q14213 Q14213
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Townes-Brocks Syndrome
Endocrine System Diseases
PCOS
Musculoskeletal Diseases
Radial Club Hand
Nervous System Diseases
Spina Bifida
Psychiatric/Brain disorders
Intellectual Disability
References
 

Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients.

Kenigsberg Shlomit, Bentov Yaakov, Chalifa-Caspi Vered, Potashnik Gad, Ofir Rivka, Birk Ohad S
The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University, Beer-Sheva, Israel.
Mol Hum Reprod. 2009 Feb;15(2):89-103. doi: 10.1093/molehr/gan082. Epub 2009 Jan

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