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UniProtKB - Q9NYF0 (DACT1_HUMAN)

Entry version 151 (31 Jul 2019)
Sequence version 2 (15 Aug 2003)
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Protein

Dapper homolog 1

Gene

DACT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.By similarity5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processNeurogenesis, Wnt signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-4641258 Degradation of DVL

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9NYF0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dapper homolog 1
Short name:
hDPR1
Alternative name(s):
Dapper antagonist of catenin 1
Hepatocellular carcinoma novel gene 3 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DACT1
Synonyms:DPR1, HNG3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17748 DACT1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607861 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NYF0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cytoplasm, Nucleus, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neural tube defects (NTD)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionCongenital 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06842745R → W in NTD; uncertain pathological significance; does not affect interaction with DVL2; does not affect subcellular location; increases RHOA activation but decreases the ability to activate JNK. 1 PublicationCorresponds to variant dbSNP:rs778976254Ensembl.1
Natural variantiVAR_068429356N → K in NTD; does not affect interaction with DVL2; does not affect subcellular location; results in reduced RHOA and JNK activation. 1 Publication1
Townes-Brocks syndrome 2 (TBS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080125419 – 836Missing in TBS2; the mutant protein is stable and expressed. 1 PublicationAdd BLAST418

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi132L → A: Abolishes nuclear export; when associated with A-136. 1 Publication1
Mutagenesisi136I → A: Abolishes nuclear export; when associated with A-132. 1 Publication1
Mutagenesisi237S → A: Impairs interaction with YWHAB. Abolishes interaction with YWHAB; when associated with A-827. 1
Mutagenesisi622 – 623KK → AA: Partial nuclear accumulation upon LMB treatment. 1 Publication2
Mutagenesisi827S → A: Abolishes interaction with YWHAB; when associated with A-237. 1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		51339

MalaCards human disease database

More...MalaCardsi		DACT1
MIMi182940 phenotype
617466 phenotype

Open Targets

More...OpenTargetsi		ENSG00000165617

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		63260 Craniorachischisis
268823 Occipital encephalocele
857 Townes-Brocks syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134957283

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DACT1

Domain mapping of disease mutations (DMDM)

More...DMDMi		34098740

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001913531 – 836Dapper homolog 1Add BLAST836

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei237Phosphoserine; by PKA1 Publication1
Modified residuei827Phosphoserine; by PKA1 Publication1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NYF0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NYF0

PeptideAtlas

More...PeptideAtlasi		Q9NYF0

PRoteomics IDEntifications database

More...PRIDEi		Q9NYF0

ProteomicsDB human proteome resource

More...ProteomicsDBi		2406
83217 [Q9NYF0-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NYF0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NYF0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165617 Expressed in 155 organ(s), highest expression level in neocortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NYF0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NYF0 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA003016

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Can form homodimers and heterodimers with DACT2 or DACT3.

Interacts with CSNK1D, PKA catalytic subunit, PKC-type kinase, CSNK2A1, CSNK2B, DVL1, DVL3, VANGL1, VANGL2, CTNND1 and HDAC1 (By similarity).

Interacts with DVL2.

Interacts with YWHAB; the interaction is enhanced by PKA phosphorylating DACT1 at Ser-237 and Ser-827.

Interacts with CTNNB1 and HDAC1.

Interacts with GSK3B; the interaction is indicative for an association of DACT1 with the beta-catenin destruction complex.

Interacts with GSK3A.

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		119486, 19 interactors

Protein interaction database and analysis system

More...IntActi		Q9NYF0, 23 interactors

Molecular INTeraction database

More...MINTi		Q9NYF0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000337439

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni92 – 156Required for self-associationBy similarityAdd BLAST65

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili92 – 156Sequence analysisAdd BLAST65

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi132 – 141Nuclear export signal10
Motifi610 – 623Bipartite nuclear localization signalCuratedAdd BLAST14
Motifi826 – 836PDZ-bindingBy similarityAdd BLAST11

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal PDZ-binding motif mediates interaction with the PDZ domains of DSH (Dishevelled) family proteins.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the dapper family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IGBZ Eukaryota
ENOG4110UQH LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183181

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000015393

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NYF0

KEGG Orthology (KO)

More...KOi		K22154

Identification of Orthologs from Complete Genome Data

More...OMAi		QWSKESK

Database of Orthologous Groups

More...OrthoDBi		674318at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NYF0

TreeFam database of animal gene trees

More...TreeFami		TF331300

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR024848 Dact1
IPR024843 Dapper

The PANTHER Classification System

More...PANTHERi		PTHR15919 PTHR15919, 1 hit
PTHR15919:SF12 PTHR15919:SF12, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15268 Dapper, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NYF0-1) [UniParc]FASTAAdd to basket
Also known as: Alpha, Long

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA 
        60         70         80         90        100
TLAGLAELEY LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE 
       110        120        130        140        150
EKFLEENILL LRKQLNCLRR RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH 
       160        170        180        190        200
LETDSRPSSG FYELSDGASG SLSNSSNSVF SECLSSCHSS TCFCSPLEAT 
       210        220        230        240        250
LSLSDGCPKS ADLIGLLEYK EGHCEDQASG AVCRSLSTPQ FNSLDVIADV 
       260        270        280        290        300
NPKYQCDLVS KNGNDVYRYP SPLHAVAVQS PMFLLCLTGN PLREEDRLGN 
       310        320        330        340        350
HASDICGGSE LDAVKTDSSL PSPSSLWSAS HPSSSKKMDG YILSLVQKKT 
       360        370        380        390        400
HPVRTNKPRT SVNADPTKGL LRNGSVCVRA PGGVSQGNSV NLKNSKQACL 
       410        420        430        440        450
PSGGIPSLNN GTFSPPKQWS KESKAEQAES KRVPLPEGCP SGAASDLQSK 
       460        470        480        490        500
HLPKTAKPAS QEHARCSAIG TGESPKESAQ LSGASPKESP SRGPAPPQEN 
       510        520        530        540        550
KVVQPLKKMS QKNSLQGVPP ATPPLLSTAF PVEERPALDF KSEGSSQSLE 
       560        570        580        590        600
EAHLVKAQFI PGQQPSVRLH RGHRNMGVVK NSSLKHRGPA LQGLENGLPT 
       610        620        630        640        650
VREKTRAGSK KCRFPDDLDT NKKLKKASSK GRKSGGGPEA GVPGRPAGGG 
       660        670        680        690        700
HRAGSRAHGH GREAVVAKPK HKRTDYRRWK SSAEISYEEA LRRARRGRRE 
       710        720        730        740        750
NVGLYPAPVP LPYASPYAYV ASDSEYSAEC ESLFHSTVVD TSEDEQSNYT 
       760        770        780        790        800
TNCFGDSESS VSEGEFVGES TTTSDSEESG GLIWSQFVQT LPIQTVTAPD 
       810        820        830 
LHNHPAKTFV KIKASHNLKK KILRFRSGSL KLMTTV
Length:836
Mass (Da):90,174
Last modified:August 15, 2003 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i10B77DC5B7C73485
GO
Isoform 2 (identifier: Q9NYF0-2) [UniParc]FASTAAdd to basket
Also known as: Beta, Short

The sequence of this isoform differs from the canonical sequence as follows:
     213-249: Missing.

Show »
Length:799
Mass (Da):86,212
Checksum:iDD6E27684D714681
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z673B7Z673_HUMAN
Dapper homolog 1
DACT1
555Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JGV7C9JGV7_HUMAN
Dapper homolog 1
DACT1
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF65569 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD61905 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06842745R → W in NTD; uncertain pathological significance; does not affect interaction with DVL2; does not affect subcellular location; increases RHOA activation but decreases the ability to activate JNK. 1 PublicationCorresponds to variant dbSNP:rs778976254Ensembl.1
Natural variantiVAR_036461124G → C in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_068428142D → G Found in a patient with craniorachischisis; sporadic case; unknown pathological significance. 1 Publication1
Natural variantiVAR_068429356N → K in NTD; does not affect interaction with DVL2; does not affect subcellular location; results in reduced RHOA and JNK activation. 1 Publication1
Natural variantiVAR_080125419 – 836Missing in TBS2; the mutant protein is stable and expressed. 1 PublicationAdd BLAST418
Natural variantiVAR_053057446D → N. Corresponds to variant dbSNP:rs34015825Ensembl.1
Natural variantiVAR_053058464A → V1 PublicationCorresponds to variant dbSNP:rs17832998Ensembl.1
Natural variantiVAR_053059628S → A. Corresponds to variant dbSNP:rs17094821Ensembl.1
Natural variantiVAR_036462682S → L in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1198900887Ensembl.1
Natural variantiVAR_053060697G → S. Corresponds to variant dbSNP:rs698025Ensembl.1
Natural variantiVAR_068430702V → G Found in a patient with closed spina bifida; sporadic case; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1028180302Ensembl.1
Natural variantiVAR_068431800D → G1 PublicationCorresponds to variant dbSNP:rs773720154Ensembl.1
Natural variantiVAR_068432808T → K Found in a patient with encephalocele; sporadic case; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_044198213 – 249Missing in isoform 2. CuratedAdd BLAST37

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL133312 Genomic DNA No translation available.
BX161433 mRNA Translation: CAD61905.1 Different initiation.
AF251079 mRNA Translation: AAF65569.1 Different initiation.
BK000256 mRNA Translation: DAA00310.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41961.1 [Q9NYF0-2]
CCDS9736.1 [Q9NYF0-1]

NCBI Reference Sequences

More...RefSeqi		NP_001072988.1, NM_001079520.1 [Q9NYF0-2]
NP_057735.2, NM_016651.5 [Q9NYF0-1]
XP_006720230.1, XM_006720167.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000335867; ENSP00000337439; ENSG00000165617 [Q9NYF0-1]
ENST00000395153; ENSP00000378582; ENSG00000165617 [Q9NYF0-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51339

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51339

UCSC genome browser

More...UCSCi		uc001xdw.4 human [Q9NYF0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Dapper antagonist of beta-catenin homolog 1 (Xenopus laevis) (DACT1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL133312 Genomic DNA No translation available.
BX161433 mRNA Translation: CAD61905.1 Different initiation.
AF251079 mRNA Translation: AAF65569.1 Different initiation.
BK000256 mRNA Translation: DAA00310.1
CCDSiCCDS41961.1 [Q9NYF0-2]
CCDS9736.1 [Q9NYF0-1]
RefSeqiNP_001072988.1, NM_001079520.1 [Q9NYF0-2]
NP_057735.2, NM_016651.5 [Q9NYF0-1]
XP_006720230.1, XM_006720167.3

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi119486, 19 interactors
IntActiQ9NYF0, 23 interactors
MINTiQ9NYF0
STRINGi9606.ENSP00000337439

PTM databases

iPTMnetiQ9NYF0
PhosphoSitePlusiQ9NYF0

Polymorphism and mutation databases

BioMutaiDACT1
DMDMi34098740

Proteomic databases

jPOSTiQ9NYF0
PaxDbiQ9NYF0
PeptideAtlasiQ9NYF0
PRIDEiQ9NYF0
ProteomicsDBi2406
83217 [Q9NYF0-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		51339
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335867; ENSP00000337439; ENSG00000165617 [Q9NYF0-1]
ENST00000395153; ENSP00000378582; ENSG00000165617 [Q9NYF0-2]
GeneIDi51339
KEGGihsa:51339
UCSCiuc001xdw.4 human [Q9NYF0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51339
DisGeNETi51339

GeneCards: human genes, protein and diseases

More...GeneCardsi		DACT1
HGNCiHGNC:17748 DACT1
HPAiHPA003016
MalaCardsiDACT1
MIMi182940 phenotype
607861 gene
617466 phenotype
neXtProtiNX_Q9NYF0
OpenTargetsiENSG00000165617
Orphaneti63260 Craniorachischisis
268823 Occipital encephalocele
857 Townes-Brocks syndrome
PharmGKBiPA134957283

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IGBZ Eukaryota
ENOG4110UQH LUCA
GeneTreeiENSGT00950000183181
HOGENOMiHOG000015393
InParanoidiQ9NYF0
KOiK22154
OMAiQWSKESK
OrthoDBi674318at2759
PhylomeDBiQ9NYF0
TreeFamiTF331300

Enzyme and pathway databases

ReactomeiR-HSA-4641258 Degradation of DVL
SIGNORiQ9NYF0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DACT1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		51339

Protein Ontology

More...PROi		PR:Q9NYF0

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165617 Expressed in 155 organ(s), highest expression level in neocortex
ExpressionAtlasiQ9NYF0 baseline and differential
GenevisibleiQ9NYF0 HS

Family and domain databases

InterProiView protein in InterPro
IPR024848 Dact1
IPR024843 Dapper
PANTHERiPTHR15919 PTHR15919, 1 hit
PTHR15919:SF12 PTHR15919:SF12, 1 hit
PfamiView protein in Pfam
PF15268 Dapper, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDACT1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NYF0
Secondary accession number(s): A8MYJ2, Q86TY0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: August 15, 2003
Last modified: July 31, 2019
This is version 151 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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