DACT1
entrez
51339
canonical
uniprot
Q9NYF0
canonical
ensembl
ENSG00000165617
resolver
ensp
ENSP00000337439
resolver
ensp
ENSP00000378582
resolver
genesymbol
DACT1
resolver
genesymbol_syn
DPR1
resolver
genesymbol_syn
HNG3
resolver
hgnc
HGNC:17748
resolver
uniprot
A8MYJ2
resolver
uniprot
Q86TY0
resolver
uniprot_entry
DACT1_HUMAN
resolver
uniprot_sec
A8MYJ2
resolver
uniprot_sec
Q86TY0
resolver
amino_acid_sequence
MKPSPAGTAKELEPPAPARGEQRTAEPEGRWREKGEADTERQRTRERQEATLAGLAELEYLRQRQELLVRGALRGAGGAGAAAPRAGELLGEAAQRSRLEEKFLEENILLLRKQLNCLRRRDAGLLNQLQELDKQISDLRLDVEKTSEEHLETDSRPSSGFYELSDGASGSLSNSSNSVFSECLSSCHSSTCFCSPLEATLSLSDGCPKSADLIGLLEYKEGHCEDQASGAVCRSLSTPQFNSLDVIADVNPKYQCDLVSKNGNDVYRYPSPLHAVAVQSPMFLLCLTGNPLREEDRLGNHASDICGGSELDAVKTDSSLPSPSSLWSASHPSSSKKMDGYILSLVQKKTHPVRTNKPRTSVNADPTKGLLRNGSVCVRAPGGVSQGNSVNLKNSKQACLPSGGIPSLNNGTFSPPKQWSKESKAEQAESKRVPLPEGCPSGAASDLQSKHLPKTAKPASQEHARCSAIGTGESPKESAQLSGASPKESPSRGPAPPQENKVVQPLKKMSQKNSLQGVPPATPPLLSTAFPVEERPALDFKSEGSSQSLEEAHLVKAQFIPGQQPSVRLHRGHRNMGVVKNSSLKHRGPALQGLENGLPTVREKTRAGSKKCRFPDDLDTNKKLKKASSKGRKSGGGPEAGVPGRPAGGGHRAGSRAHGHGREAVVAKPKHKRTDYRRWKSSAEISYEEALRRARRGRRENVGLYPAPVPLPYASPYAYVASDSEYSAECESLFHSTVVDTSEDEQSNYTTNCFGDSESSVSEGEFVGESTTTSDSEESGGLIWSQFVQTLPIQTVTAPDLHNHPAKTFVKIKASHNLKKKILRFRSGSLKLMTTV
uniprot
proteins
disease_involvement
DISEASE: Neural tube defects (NTD) [MIM:182940]: 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. {ECO:0000269|PubMed:22610794}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Townes-Brocks syndrome 2 (TBS2) [MIM:617466]: 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. {ECO:0000269|PubMed:28054444}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000250, ECO:0000269|PubMed:15580286, ECO:0000269|PubMed:16446366, ECO:0000269|PubMed:17197390, ECO:0000269|PubMed:18936100, ECO:0000269|PubMed:22470507}.
uniprot
proteins
mass_dalton
90174
uniprot
proteins
mutagenesis
MUTAGEN 132; /note="L->A: Abolishes nuclear export; when associated with A-136."; /evidence="ECO:0000269|PubMed:18936100"; MUTAGEN 136; /note="I->A: Abolishes nuclear export; when associated with A-132."; /evidence="ECO:0000269|PubMed:18936100"; MUTAGEN 237; /note="S->A: Impairs interaction with YWHAB. Abolishes interaction with YWHAB; when associated with A-827."; MUTAGEN 622..623; /note="KK->AA: Partial nuclear accumulation upon LMB treatment."; /evidence="ECO:0000269|PubMed:18936100"; MUTAGEN 827; /note="S->A: Abolishes interaction with YWHAB; when associated with A-237.
uniprot
proteins
protein_family
Dapper family
uniprot
proteins
pubmed
11970895
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15580286
uniprot
proteins
pubmed
16446366
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17197390
uniprot
proteins
pubmed
18936100
uniprot
proteins
pubmed
21262972
uniprot
proteins
pubmed
21718540
uniprot
proteins
pubmed
22470507
uniprot
proteins
pubmed
22610794
uniprot
proteins
pubmed
28054444
uniprot
proteins
sequence_length
836
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Synapse {ECO:0000250}. 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.
uniprot
proteins