DACT1 dishevelled binding antagonist of beta catenin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DACT1provided by HGNC
Official Full Name: dishevelled binding antagonist of beta catenin 1provided by HGNC
Primary source: HGNC:HGNC:17748
See related: Ensembl:ENSG00000165617 MIM:607861; AllianceGenome:HGNC:17748
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DPR1; TBS2; FRODO; HDPR1; DAPPER; THYEX3; DAPPER1
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]
Expression: Broad expression in gall bladder (RPKM 10.6), ovary (RPKM 9.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (58634061..58648321)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (52841138..52855396)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (59100779..59115039)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Different expression of DACT1, DACT2, and CYCLIN D1 genes in human colorectal cancer tissues and its association with clinicopathological characteristics.
Title: Different expression of DACT1, DACT2, and CYCLIN D1 genes in human colorectal cancer tissues and its association with clinicopathological characteristics.
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Title: Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
M(6)A demethylase FTO-mediated downregulation of DACT1 mRNA stability promotes Wnt signaling to facilitate osteosarcoma progression.
Title: M(6)A demethylase FTO-mediated downregulation of DACT1 mRNA stability promotes Wnt signaling to facilitate osteosarcoma progression.
Disheveled binding antagonist of beta-catenin 1 interacted with beta-catenin and connexin 43 in human-induced pluripotent stem cells-derived cardiomyocytes.
Title: Disheveled binding antagonist of β-catenin 1 interacted with β-catenin and connexin 43 in human-induced pluripotent stem cells-derived cardiomyocytes.
Histone Deacetylation Regulated by KDM1A to Suppress DACT1 in Proliferation and Migration of Cervical Cancer.
Title: Histone Deacetylation Regulated by KDM1A to Suppress DACT1 in Proliferation and Migration of Cervical Cancer.
DACT1 variants and colorectal cancer.
Title: DACT1 variants and colorectal cancer.
Cyclin G2 regulates canonical Wnt signalling via interaction with Dapper1 to attenuate tubulointerstitial fibrosis in diabetic nephropathy.
Title: Cyclin G2 regulates canonical Wnt signalling via interaction with Dapper1 to attenuate tubulointerstitial fibrosis in diabetic nephropathy.
We identified DACT1 as a negative regulator in type I EOC, protecting against malignant expansion by inhibiting canonical Wnt signalling and cis-platinum resistance by regulating autophagy.
Title: DACT1 Overexpression in type I ovarian cancer inhibits malignant expansion and cis-platinum resistance by modulating canonical Wnt signalling and autophagy.
This study demonstrates that cyclin G2 suppresses Wnt/beta-catenin signaling and inhibits gastric cancer cell growth and migration through Dapper1.
Title: Cyclin G2 suppresses Wnt/β-catenin signaling and inhibits gastric cancer cell growth and migration through Dapper1.
DACT1alpha plays a pivotal role as a potential tumor suppressor in migration and invasion of gastric cancer. DACT1alpha methylation may serve as a biomarker for the prognosis of gastric cancer.
Title: Dapper homolog 1 alpha suppresses metastasis ability of gastric cancer through inhibiting planar cell polarity pathway.

Submit: New GeneRIF Correction See all GeneRIFs (34)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Townes-Brocks syndrome 2 MedGen: C4479534 OMIM: 617466 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98203 (e-PCR)
- UniSTS:89025

RH135896 (e-PCR)
- UniSTS:209894

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables delta-catenin binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase C binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in embryonic hindgut morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of beta-catenin-TCF complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein binding	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein binding	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Wnt signaling pathway, planar cell polarity pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Wnt signaling pathway, planar cell polarity pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of nodal signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein stability	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of beta-catenin destruction complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dapper homolog 1

Names: dapper antagonist of catenin 1; dapper, antagonist of beta-catenin, homolog 1; hepatocellular carcinoma novel gene 3 protein; heptacellular carcinoma novel gene 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032025.1 RefSeqGene

Range

8895..19254

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001079520.2 → NP_001072988.1 dapper homolog 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at the 3' terminal exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.

Source sequence(s)

AL133312, BU742074, CN304224, DR001289, DR157190

Consensus CDS

CCDS41961.1

UniProtKB/Swiss-Prot

Q9NYF0

Related

ENSP00000378582.3, ENST00000395153.8

Conserved Domains (1) summary

pfam15268
Location:46 → 799

Dapper; Dapper
NM_016651.6 → NP_057735.2 dapper homolog 1 isoform 1

See identical proteins and their annotated locations for NP_057735.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL133312, BK000256, BU742074, CN304224, DR001289

Consensus CDS

CCDS9736.1

UniProtKB/Swiss-Prot

A8MYJ2, Q86TY0, Q9NYF0

Related

ENSP00000337439.4, ENST00000335867.4

Conserved Domains (1) summary

pfam15268
Location:46 → 836

Dapper; Dapper

RNA

NR_046093.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and uses an alternate acceptor splice site at the 3' terminal exon compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF (with a strong Kozak signal) that is predicted to interfere with the translation of the longest downstream ORF; translation of the upstream ORF renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF251079, AK316237, AL133312
NR_046095.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AF251079, AK299879, AK316164
NR_165650.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133312
NR_165651.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133312
NR_165652.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL133312