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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 Plasma proteins
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
6
Cytoband
Chromosome location (bp)
51615299 - 52087613
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway 1. During epithelial cell morphogenesis regulates also cell-cell and cell-matrix adhesion and participates in cell motility (By similarity). Promotes cell-cell contact through the positive regulation of PTK2 kinase activity leading to either positive regulation of epithelial cell proliferation through the HRAS/RAF1 pathways, or negative regulation of apoptosis through the PDK1/AKT1 pathway (By similarity). May act in collecting-duct and biliary differentiation 2. May participate in the regulation of the cholangiocytes proliferation and the CCN2 production in an CXCL8-dependent manner 3....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Receptor
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]...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.
SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Secreted proteins predicted by MDSEC SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000132[establishment of mitotic spindle orientation] GO:0000775[chromosome, centromeric region] GO:0001952[regulation of cell-matrix adhesion] GO:0003382[epithelial cell morphogenesis] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005813[centrosome] GO:0005819[spindle] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005929[cilium] GO:0006874[cellular calcium ion homeostasis] GO:0008284[positive regulation of cell population proliferation] GO:0009897[external side of plasma membrane] GO:0010824[regulation of centrosome duplication] GO:0016020[membrane] GO:0016324[apical plasma membrane] GO:0022407[regulation of cell-cell adhesion] GO:0030155[regulation of cell adhesion] GO:0032006[regulation of TOR signaling] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0036064[ciliary basal body] GO:0038023[signaling receptor activity] GO:0042592[homeostatic process] GO:0042995[cell projection] GO:0043066[negative regulation of apoptotic process] GO:0045216[cell-cell junction organization] GO:0048471[perinuclear region of cytoplasm] GO:0048754[branching morphogenesis of an epithelial tube] GO:0050679[positive regulation of epithelial cell proliferation] GO:0051660[establishment of centrosome localization] GO:0051898[negative regulation of protein kinase B signaling] GO:0070062[extracellular exosome] GO:0070372[regulation of ERK1 and ERK2 cascade] GO:0072686[mitotic spindle] GO:0090175[regulation of establishment of planar polarity] GO:0098609[cell-cell adhesion] GO:1904036[negative regulation of epithelial cell apoptotic process] GO:1904054[regulation of cholangiocyte proliferation]
The Human Protein Atlas project is funded
