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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).
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
19
Cytoband
q13.33
Chromosome location (bp)
49806866 - 49817376
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia (By similarity)....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.
Cilium biogenesis/degradation, Protein transport, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 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.
A0A024QZF7 [Target identity:100%; Query identity:100%] Uncharacterized protein
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001736[establishment of planar polarity] GO:0001843[neural tube closure] GO:0001942[hair follicle development] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005929[cilium] GO:0008285[negative regulation of cell population proliferation] GO:0008589[regulation of smoothened signaling pathway] GO:0010172[embryonic body morphogenesis] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0021915[neural tube development] GO:0030030[cell projection organization] GO:0030336[negative regulation of cell migration] GO:0042073[intraciliary transport] GO:0042995[cell projection] GO:0045724[positive regulation of cilium assembly] GO:0048704[embryonic skeletal system morphogenesis] GO:0060271[cilium assembly] GO:0070062[extracellular exosome] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090301[negative regulation of neural crest formation] GO:1902017[regulation of cilium assembly] GO:1905515[non-motile cilium assembly] GO:2000314[negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation]
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001736[establishment of planar polarity] GO:0001843[neural tube closure] GO:0001942[hair follicle development] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005929[cilium] GO:0008285[negative regulation of cell population proliferation] GO:0008589[regulation of smoothened signaling pathway] GO:0010172[embryonic body morphogenesis] GO:0015031[protein transport] GO:0016192[vesicle-mediated transport] GO:0021915[neural tube development] GO:0030030[cell projection organization] GO:0030336[negative regulation of cell migration] GO:0042073[intraciliary transport] GO:0042995[cell projection] GO:0045724[positive regulation of cilium assembly] GO:0048704[embryonic skeletal system morphogenesis] GO:0060271[cilium assembly] GO:0070062[extracellular exosome] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090301[negative regulation of neural crest formation] GO:1902017[regulation of cilium assembly] GO:1905515[non-motile cilium assembly] GO:2000314[negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation]
SPOCTOPUS predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system