Entity Details

Primary name DACT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NYF0
EntryNameDACT1_HUMAN
FullNameDapper homolog 1
TaxID9606
Evidenceevidence at protein level
Length836
SequenceStatuscomplete
DateCreated2003-08-15
DateModified2021-06-02

Ontological Relatives

GenesDACT1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0005080 protein kinase C binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0008013 beta-catenin binding
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:0042826 histone deacetylase binding
GO:0045202 synapse
GO:0045732 positive regulation of protein catabolic process
GO:0046329 negative regulation of JNK cascade
GO:0048619 embryonic hindgut morphogenesis
GO:0051018 protein kinase A binding
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0070097 delta-catenin binding
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

Subcellular Location

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Subcellular Location
Cell junction
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR024843 DapperFamilyFamily
IPR024848 Dact1FamilyFamily

Diseases

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Disease IDSourceNameDescription
617466 OMIMTownes-Brocks syndrome 2 (TBS2)A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. The disease is caused by variants affecting the gene represented in this entry.
182940 OMIMNeural tube defects (NTD)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.