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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 Potential drug targets Transporters
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
17
Cytoband
q22
Chromosome location (bp)
58205441 - 58219605
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cilium biogenesis/degradation
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]...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.
H0Y2S2 [Direct mapping] Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
Q9NXB0 [Direct mapping] Tectonic-like complex member MKS1
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Transporters Accessory Factors Involved in Transport MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system 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:0001843[neural tube closure] GO:0003271[smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005814[centriole] GO:0005815[microtubule organizing center] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005929[cilium] GO:0007368[determination of left/right symmetry] GO:0008589[regulation of smoothened signaling pathway] GO:0010669[epithelial structure maintenance] GO:0016020[membrane] GO:0030030[cell projection organization] GO:0035869[ciliary transition zone] GO:0036038[MKS complex] GO:0036064[ciliary basal body] GO:0042733[embryonic digit morphogenesis] GO:0042995[cell projection] GO:0044458[motile cilium assembly] GO:0048706[embryonic skeletal system development] GO:0048754[branching morphogenesis of an epithelial tube] GO:0060122[inner ear receptor cell stereocilium organization] GO:0060271[cilium assembly] GO:0060322[head development] GO:0060411[cardiac septum morphogenesis] GO:0060828[regulation of canonical Wnt signaling pathway] GO:0061009[common bile duct development] GO:1901620[regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning] GO:1905515[non-motile cilium assembly] GO:1990403[embryonic brain development] GO:2000095[regulation of Wnt signaling pathway, planar cell polarity pathway]
A0A0S2Z5Z2 [Direct mapping] Meckel syndrome type 1 isoform 3; Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
J3KSF4 [Direct mapping] Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
J3KSC6 [Direct mapping] Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
A0A6Q8PGJ4 [Direct mapping] Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
J3KRR3 [Direct mapping] Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
J3QQP4 [Direct mapping] Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
A0A7I2V4C1 [Direct mapping] Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
A0A7I2V2M0 [Direct mapping] Meckel syndrome type 1 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Congenital malformations Congenital malformations of the nervous system Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
