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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
3
Cytoband
q22.1
Chromosome location (bp)
132680609 - 132722432
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Wnt signaling pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]...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.
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001822[kidney development] GO:0001947[heart looping] GO:0003283[atrial septum development] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005829[cytosol] GO:0005929[cilium] GO:0006629[lipid metabolic process] GO:0007163[establishment or maintenance of cell polarity] GO:0007368[determination of left/right symmetry] GO:0016055[Wnt signaling pathway] GO:0030198[extracellular matrix organization] GO:0030324[lung development] GO:0032092[positive regulation of protein binding] GO:0035469[determination of pancreatic left/right asymmetry] GO:0042995[cell projection] GO:0045494[photoreceptor cell maintenance] GO:0048496[maintenance of animal organ identity] GO:0060026[convergent extension] GO:0060027[convergent extension involved in gastrulation] GO:0060271[cilium assembly] GO:0060287[epithelial cilium movement involved in determination of left/right asymmetry] GO:0060993[kidney morphogenesis] GO:0071908[determination of intestine left/right asymmetry] GO:0071909[determination of stomach left/right asymmetry] GO:0071910[determination of liver left/right asymmetry] GO:0072189[ureter development] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097543[ciliary inversin compartment] GO:0097546[ciliary base] GO:1905515[non-motile cilium assembly] GO:2000095[regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000167[regulation of planar cell polarity pathway involved in neural tube closure]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001822[kidney development] GO:0001947[heart looping] GO:0003283[atrial septum development] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005829[cytosol] GO:0005929[cilium] GO:0007368[determination of left/right symmetry] GO:0016055[Wnt signaling pathway] GO:0030324[lung development] GO:0035469[determination of pancreatic left/right asymmetry] GO:0042995[cell projection] GO:0045494[photoreceptor cell maintenance] GO:0048496[maintenance of animal organ identity] GO:0060026[convergent extension] GO:0060027[convergent extension involved in gastrulation] GO:0060271[cilium assembly] GO:0060287[epithelial cilium movement involved in determination of left/right asymmetry] GO:0060993[kidney morphogenesis] GO:0071908[determination of intestine left/right asymmetry] GO:0071909[determination of stomach left/right asymmetry] GO:0071910[determination of liver left/right asymmetry] GO:0072189[ureter development] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097543[ciliary inversin compartment] GO:0097546[ciliary base] GO:2000095[regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000167[regulation of planar cell polarity pathway involved in neural tube closure]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the urinary system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001822[kidney development] GO:0001947[heart looping] GO:0003283[atrial septum development] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005829[cytosol] GO:0005929[cilium] GO:0007368[determination of left/right symmetry] GO:0016055[Wnt signaling pathway] GO:0030324[lung development] GO:0035469[determination of pancreatic left/right asymmetry] GO:0042995[cell projection] GO:0045494[photoreceptor cell maintenance] GO:0048496[maintenance of animal organ identity] GO:0060026[convergent extension] GO:0060027[convergent extension involved in gastrulation] GO:0060271[cilium assembly] GO:0060287[epithelial cilium movement involved in determination of left/right asymmetry] GO:0060993[kidney morphogenesis] GO:0071908[determination of intestine left/right asymmetry] GO:0071909[determination of stomach left/right asymmetry] GO:0071910[determination of liver left/right asymmetry] GO:0072189[ureter development] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097543[ciliary inversin compartment] GO:0097546[ciliary base] GO:2000095[regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000167[regulation of planar cell polarity pathway involved in neural tube closure]
The Human Protein Atlas project is funded
