Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51339
Gene name	Dishevelled binding antagonist of beta catenin 1
Gene symbol	DACT1
Synonyms (NCBI Gene)	DAPPERDAPPER1DPR1FRODOHDPR1TBS2THYEX3
Chromosome	14
Chromosome location	14q23.1
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

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1064797092	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555329832	TG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018275	hsa-miR-335-5p	Microarray	18185580
MIRT022775	hsa-miR-124-3p	Microarray	18668037
MIRT736070	hsa-miR-324-3p	Luciferase reporter assayWestern blottingqRT-PCR	32760225
MIRT922661	hsa-miR-1253	CLIP-seq
MIRT922662	hsa-miR-3156-5p	CLIP-seq
MIRT922663	hsa-miR-3189-3p	CLIP-seq
MIRT922664	hsa-miR-3622a-3p	CLIP-seq
MIRT922665	hsa-miR-3622b-3p	CLIP-seq
MIRT922666	hsa-miR-4434	CLIP-seq
MIRT922667	hsa-miR-450b-3p	CLIP-seq
MIRT922668	hsa-miR-4516	CLIP-seq
MIRT922669	hsa-miR-4713-3p	CLIP-seq
MIRT922670	hsa-miR-638	CLIP-seq
MIRT922671	hsa-miR-769-3p	CLIP-seq
MIRT922672	hsa-miR-129-3p	CLIP-seq
MIRT922673	hsa-miR-3692	CLIP-seq
MIRT1547849	hsa-miR-4731-3p	CLIP-seq
MIRT1547850	hsa-miR-4801	CLIP-seq
MIRT1973320	hsa-miR-1179	CLIP-seq
MIRT1973321	hsa-miR-4422	CLIP-seq
MIRT1973322	hsa-miR-885-5p	CLIP-seq
MIRT2512774	hsa-miR-4282	CLIP-seq
MIRT2512775	hsa-miR-590-3p	CLIP-seq
MIRT2512776	hsa-miR-593	CLIP-seq

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Transcription factor	Regulation	Reference
NKX2-5	Repression	19479054

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18936100
GO:0005080	Function	Protein kinase C binding	ISS
GO:0005515	Function	Protein binding	IPI	16446366, 21262972, 22470507, 22610794
GO:0005634	Component	Nucleus	IDA	18936100
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16446366, 18936100, 22610794
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007399	Process	Nervous system development	IEA
GO:0008013	Function	Beta-catenin binding	IDA	18936100, 22470507
GO:0008013	Function	Beta-catenin binding	IPI	18936100
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021915	Process	Neural tube development	IMP	22610794
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IDA	21262972
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IDA	16446366, 17197390
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IGI	16446366
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IMP	18936100
GO:0030877	Component	Beta-catenin destruction complex	IDA	22470507
GO:0031647	Process	Regulation of protein stability	IDA	21262972
GO:0042826	Function	Histone deacetylase binding	IPI	18936100
GO:0045202	Component	Synapse	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	IDA	16446366
GO:0045732	Process	Positive regulation of protein catabolic process	IDA	16446366
GO:0045732	Process	Positive regulation of protein catabolic process	IMP	18936100
GO:0046329	Process	Negative regulation of JNK cascade	IBA
GO:0046329	Process	Negative regulation of JNK cascade	IDA	17197390
GO:0048619	Process	Embryonic hindgut morphogenesis	ISS
GO:0051018	Function	Protein kinase A binding	IDA	21262972
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IMP	18936100
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	18936100
GO:0070097	Function	Delta-catenin binding	ISS
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IGI	18936100
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	22610794
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	15580286
GO:0140416	Function	Transcription regulator inhibitor activity	IGI	18936100
GO:1900107	Process	Regulation of nodal signaling pathway	IDA	17197390
GO:1904864	Process	Negative regulation of beta-catenin-TCF complex assembly	IDA	18936100
GO:2000095	Process	Regulation of Wnt signaling pathway, planar cell polarity pathway	IBA
GO:2000095	Process	Regulation of Wnt signaling pathway, planar cell polarity pathway	ISS
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IDA	18936100

MIM	HGNC	e!Ensembl
607861	17748	ENSG00000165617

Q9NYF0

Protein name

Dapper homolog 1 (hDPR1) (Dapper antagonist of catenin 1) (Hepatocellular carcinoma novel gene 3 protein)

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 activatio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15268	Dapper	46 → 836	Dapper	Family

Sequence

MKPSPAGTAKELEPPAPARGEQRTAEPEGRWREKGEADTERQRTRERQEATLAGLAELEY
LRQRQELLVRGALRGAGGAGAAAPRAGELLGEAAQRSRLEEKFLEENILLLRKQLNCLRR
RDAGLLNQLQELDKQISDLRLDVEKTSEEHLETDSRPSSGFYELSDGASGSLSNSSNSVF
SECLSSCHSSTCFCSPLEATLSLSDGCPKSADLIGLLEYKEGHCEDQASGAVCRSLSTPQ
FNSLDVIADVNPKYQCDLVSKNGNDVYRYPSPLHAVAVQSPMFLLCLTGNPLREEDRLGN
HASDICGGSELDAVKTDSSLPSPSSLWSASHPSSSKKMDGYILSLVQKKTHPVRTNKPRT
SVNADPTKGLLRNGSVCVRAPGGVSQGNSVNLKNSKQACLPSGGIPSLNNGTFSPPKQWS
KESKAEQAESKRVPLPEGCPSGAASDLQSKHLPKTAKPASQEHARCSAIGTGESPKESAQ
LSGASPKESPSRGPAPPQENKVVQPLKKMSQKNSLQGVPPATPPLLSTAFPVEERPALDF
KSEGSSQSLEEAHLVKAQFIPGQQPSVRLHRGHRNMGVVKNSSLKHRGPALQGLENGLPT
VREKTRAGSKKCRFPDDLDTNKKLKKASSKGRKSGGGPEAGVPGRPAGGGHRAGSRAHGH
GREAVVAKPKHKRTDYRRWKSSAEISYEEALRRARRGRRENVGLYPAPVPLPYASPYAYV
ASDSEYSAECESLFHSTVVDTSEDEQSNYTTNCFGDSESSVSEGEFVGESTTTSDSEESG
GLIWSQFVQTLPIQTVTAPDLHNHPAKTFVKIKASHNLKKKILRFRSGSLKLMTTV

Sequence length

836

Interactions

View interactions

	Reactome
			Degradation of DVL

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DACT1-related neural tube defects	Likely pathogenic	rs1555329832	RCV000656341
Townes-Brocks syndrome 2	Pathogenic	rs1215157114, rs369268433, rs2544733362, rs201251394, rs1064797092	RCV003152572 RCV003152573 RCV003152574 RCV003152575 RCV000487483

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
DACT1-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs698025, rs141135250, rs2544730243, rs1046513763, rs1205762805, rs17094821, rs144708680, rs144700196, rs145747677, rs147992151, rs863091, rs199649683, rs139280719, rs150385273, rs202018245 View all (4 more)	RCV003975855 RCV003928925 RCV003404663 RCV003404433 RCV003414424 RCV003916819 RCV003947389 RCV003941684 RCV003944530 RCV003976818 RCV003981853 RCV003910553 RCV003955832 RCV003930588 RCV004754615 RCV003950456 RCV003903016 RCV003950760 RCV004754631
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2544731152	RCV004560223
Rieger anomaly	Likely benign	rs754847137	RCV000207386
Townes syndrome	Conflicting classifications of pathogenicity	rs141135250, rs147190910	RCV005356333 RCV005363322

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	38135866
Atrial Fibrillation	Associate	31545578, 35510412
Atrophy	Associate	38135866
Carcinoma Transitional Cell	Associate	23244112
Colorectal Neoplasms	Associate	21262972, 27935967
Coxa Magna	Associate	33542623
Esophageal Neoplasms	Inhibit	28077137
Esophageal Squamous Cell Carcinoma	Associate	21525190, 28077137
Farber Lipogranulomatosis	Associate	23244112
Fibrosis	Associate	31545578
Leukemia	Inhibit	29037126
Leukemia Myeloid Acute	Associate	28440495
Lung Neoplasms	Associate	25524937
Lymphatic Metastasis	Associate	21525190, 23244112, 31182157
Nasopharyngeal Carcinoma	Associate	31182157
Neoplasms	Inhibit	20548289
Neoplasms	Associate	21262972, 21525190, 23244112, 28077137, 29037126
Neoplasms Squamous Cell	Associate	25524937
Recurrence	Associate	27935967
Squamous Cell Carcinoma of Head and Neck	Associate	25524937
Sveinsson Chorioretinal Atrophy	Associate	23244112
Uterine Cervical Neoplasms	Inhibit	34350095

DACT1 (dishevelled binding antagonist of beta catenin 1)