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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
14
Cytoband
q23.1
Chromosome location (bp)
58633967 - 58648321
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Neurogenesis, Wnt signaling pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0005080[protein kinase C binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0007399[nervous system development] GO:0008013[beta-catenin binding] GO:0009968[negative regulation of signal transduction] GO:0016055[Wnt signaling pathway] GO:0021915[neural tube development] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030178[negative regulation of Wnt signaling pathway] GO:0030877[beta-catenin destruction complex] GO:0031647[regulation of protein stability] GO:0032091[negative regulation of protein binding] GO:0032092[positive regulation of protein binding] GO:0042826[histone deacetylase binding] GO:0045202[synapse] GO:0045732[positive regulation of protein catabolic process] GO:0046329[negative regulation of JNK cascade] GO:0048619[embryonic hindgut morphogenesis] GO:0051018[protein kinase A binding] GO:0060828[regulation of canonical Wnt signaling pathway] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070097[delta-catenin binding] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:1904864[negative regulation of beta-catenin-TCF complex assembly] GO:2000095[regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0005080[protein kinase C binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0007399[nervous system development] GO:0008013[beta-catenin binding] GO:0009968[negative regulation of signal transduction] GO:0016055[Wnt signaling pathway] GO:0021915[neural tube development] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030178[negative regulation of Wnt signaling pathway] GO:0030877[beta-catenin destruction complex] GO:0031647[regulation of protein stability] GO:0032091[negative regulation of protein binding] GO:0032092[positive regulation of protein binding] GO:0042826[histone deacetylase binding] GO:0045202[synapse] GO:0045732[positive regulation of protein catabolic process] GO:0046329[negative regulation of JNK cascade] GO:0048619[embryonic hindgut morphogenesis] GO:0051018[protein kinase A binding] GO:0060828[regulation of canonical Wnt signaling pathway] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070097[delta-catenin binding] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:1904864[negative regulation of beta-catenin-TCF complex assembly] GO:2000095[regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations
B7Z673 [Direct mapping] Dapper homolog 1; cDNA FLJ51077, highly similar to Dapper homolog 1; cDNA, FLJ79063, highly similar to Dapper homolog 1; cDNA, FLJ79136, highly similar to Dapper homolog 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations
B7Z673 [Direct mapping] Dapper homolog 1; cDNA FLJ51077, highly similar to Dapper homolog 1; cDNA, FLJ79063, highly similar to Dapper homolog 1; cDNA, FLJ79136, highly similar to Dapper homolog 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations
The Human Protein Atlas project is funded
