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Gene Symbol |
DACT1 |
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Aliases |
DAPPER, DAPPER1, DPR1, FRODO, HDPR1, TBS2, THYEX3 |
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Entrez Gene ID |
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Gene Name |
Dishevelled binding antagonist of beta catenin 1 |
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Chromosomal Location |
14q23.1 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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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 |
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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. |
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UniProt |
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Pfam |
Pfam Accession |
Pfam ID |
PF15268 |
Dapper |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000221847 |
Q14213 |
Q14213 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Townes-Brocks Syndrome |
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Endocrine System Diseases |
PCOS |
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Musculoskeletal Diseases |
Radial Club Hand |
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Nervous System Diseases |
Spina Bifida |
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Psychiatric/Brain disorders |
Intellectual Disability |
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Renal Disorder |
CAKUT |
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References |
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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 |
Abstract
The aim of this work was to study gene expression patterns of cultured cumulus cells from lean and overweight-obese polycystic ovary syndrome (PCOS) patients using genome-wide oligonucleotide microarray. The study included 25 patients undergoing in vitro fertilization and intra-cytoplasmic sperm injection: 12 diagnosed with PCOS and 13 matching controls. Each of the groups was subdivided into lean (body mass index (BMI) < 24) and overweight (BMI > 27) subgroups. The following comparisons of gene expression data were made: lean PCOS versus lean controls, lean PCOS versus overweight PCOS, all PCOS versus all controls, overweight PCOS versus overweight controls, overweight controls versus lean controls and all overweight versus all lean. The largest number of differentially expressed genes (DEGs), with fold change (FC) |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
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