DACT1
Dapper homolog 1
Also known as: DACT1_HUMAN, DAPPER, DAPPER1, FRODO, HDPR1, THYEX3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NYF0
- Gene
- DACT1
- Ensembl
- ENSG00000165617
- Chromosome
- 14
- Canonical length
- 836 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
836 residues, UniProt reviewed canonical sequence.
>Q9NYF0|DACT1
1 MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
61 LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
121 RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
181 SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADLIGLLEYK EGHCEDQASG AVCRSLSTPQ
241 FNSLDVIADV NPKYQCDLVS KNGNDVYRYP SPLHAVAVQS PMFLLCLTGN PLREEDRLGN
301 HASDICGGSE LDAVKTDSSL PSPSSLWSAS HPSSSKKMDG YILSLVQKKT HPVRTNKPRT
361 SVNADPTKGL LRNGSVCVRA PGGVSQGNSV NLKNSKQACL PSGGIPSLNN GTFSPPKQWS
421 KESKAEQAES KRVPLPEGCP SGAASDLQSK HLPKTAKPAS QEHARCSAIG TGESPKESAQ
481 LSGASPKESP SRGPAPPQEN KVVQPLKKMS QKNSLQGVPP ATPPLLSTAF PVEERPALDF
541 KSEGSSQSLE EAHLVKAQFI PGQQPSVRLH RGHRNMGVVK NSSLKHRGPA LQGLENGLPT
601 VREKTRAGSK KCRFPDDLDT NKKLKKASSK GRKSGGGPEA GVPGRPAGGG HRAGSRAHGH
661 GREAVVAKPK HKRTDYRRWK SSAEISYEEA LRRARRGRRE NVGLYPAPVP LPYASPYAYV
721 ASDSEYSAEC ESLFHSTVVD TSEDEQSNYT TNCFGDSESS VSEGEFVGES TTTSDSEESG
781 GLIWSQFVQT LPIQTVTAPD LHNHPAKTFV KIKASHNLKK KILRFRSGSL KLMTTVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DACT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- ovary: 36 nTPM
- blood vessel: 26 nTPM
- gallbladder: 23 nTPM
- cerebellum: 23 nTPM
- urinary bladder: 13 nTPM
- seminal vesicle: 12 nTPM
Single-cell type
- gonadotrophs: 5.8 nCPM
- fibroblasts: 5.1 nCPM
- pericytes: 4.3 nCPM
- salivary myoepithelial cells: 4.2 nCPM
- ovarian stromal cells: 4.1 nCPM
- endometrial stromal cells: 4 nCPM
Immune cell
- naive CD4 T-cell: 0.2 nTPM
- plasmacytoid DC: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebellum: 38 nTPM
- amygdala: 13 nTPM
- basal ganglia: 11 nTPM
- cerebral cortex: 9.5 nTPM
- white matter: 9.1 nTPM
- midbrain: 9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DACT1.
Disease | AllUniProt
Conditions DACT1 is implicated in, by any mechanism.
- Neural tube defects (NTD) MIM:182940
- Townes-Brocks syndrome 2 (TBS2) MIM:617466
Disease | GeneticClinVar
8 pathogenic / likely-pathogenic of 229 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Townes-Brocks syndrome 2
- DACT1-related neural tube defects
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.47
- gnomAD pLI
- 0.4
- gnomAD missense Z
- -0.53
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- embryonic hindgut morphogenesis
- negative regulation of beta-catenin-TCF complex assembly
- negative regulation of canonical Wnt signaling pathway
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of JNK cascade
- negative regulation of transcription by RNA polymerase II
- negative regulation of Wnt signaling pathway
- neural tube development
- positive regulation of canonical Wnt signaling pathway
- positive regulation of protein catabolic process
- positive regulation of Wnt signaling pathway
- regulation of canonical Wnt signaling pathway
- regulation of protein stability
- regulation of Wnt signaling pathway, planar cell polarity pathway
- Wnt signaling pathway
Molecular functions
- beta-catenin binding
- delta-catenin binding
- histone deacetylase binding
- protein kinase A binding
- protein kinase C binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- transcription regulator inhibitor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DACT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DACT1 as an antibody target. Whether an autoantibody or antibody against DACT1 could matter depends on whether native DACT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DACT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DACT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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