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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
17
Cytoband
q25.3
Chromosome location (bp)
80036632 - 80100613
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 assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella 1. Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 2....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q4G0X9 [Direct mapping] Coiled-coil domain-containing protein 40
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Respiratory diseases Tracheobronchial diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001947[heart looping] GO:0003341[cilium movement] GO:0003351[epithelial cilium movement involved in extracellular fluid movement] GO:0003356[regulation of cilium beat frequency] GO:0003674[molecular_function] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005929[cilium] GO:0005930[axoneme] GO:0030317[flagellated sperm motility] GO:0030324[lung development] GO:0035082[axoneme assembly] GO:0035469[determination of pancreatic left/right asymmetry] GO:0036159[inner dynein arm assembly] GO:0042995[cell projection] GO:0044458[motile cilium assembly] GO:0060287[epithelial cilium movement involved in determination of left/right asymmetry] GO:0070286[axonemal dynein complex assembly] GO:0071907[determination of digestive tract left/right asymmetry] GO:0071910[determination of liver left/right asymmetry]
Q4G0X9 [Direct mapping] Coiled-coil domain-containing protein 40
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Respiratory diseases Tracheobronchial diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001947[heart looping] GO:0003341[cilium movement] GO:0003351[epithelial cilium movement involved in extracellular fluid movement] GO:0003356[regulation of cilium beat frequency] GO:0003674[molecular_function] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005929[cilium] GO:0005930[axoneme] GO:0030317[flagellated sperm motility] GO:0030324[lung development] GO:0035082[axoneme assembly] GO:0035469[determination of pancreatic left/right asymmetry] GO:0036159[inner dynein arm assembly] GO:0042995[cell projection] GO:0044458[motile cilium assembly] GO:0060287[epithelial cilium movement involved in determination of left/right asymmetry] GO:0070286[axonemal dynein complex assembly] GO:0071907[determination of digestive tract left/right asymmetry] GO:0071910[determination of liver left/right asymmetry]
Q4G0X9 [Direct mapping] Coiled-coil domain-containing protein 40
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Respiratory diseases Tracheobronchial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0001947[heart looping] GO:0003341[cilium movement] GO:0003351[epithelial cilium movement involved in extracellular fluid movement] GO:0003356[regulation of cilium beat frequency] GO:0003674[molecular_function] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005929[cilium] GO:0005930[axoneme] GO:0030317[flagellated sperm motility] GO:0030324[lung development] GO:0035082[axoneme assembly] GO:0035469[determination of pancreatic left/right asymmetry] GO:0036159[inner dynein arm assembly] GO:0042995[cell projection] GO:0044458[motile cilium assembly] GO:0060287[epithelial cilium movement involved in determination of left/right asymmetry] GO:0070286[axonemal dynein complex assembly] GO:0071907[determination of digestive tract left/right asymmetry] GO:0071910[determination of liver left/right asymmetry]
Q4G0X9 [Direct mapping] Coiled-coil domain-containing protein 40
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Respiratory diseases Tracheobronchial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001947[heart looping] GO:0003341[cilium movement] GO:0003351[epithelial cilium movement involved in extracellular fluid movement] GO:0003356[regulation of cilium beat frequency] GO:0003674[molecular_function] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005929[cilium] GO:0005930[axoneme] GO:0030317[flagellated sperm motility] GO:0030324[lung development] GO:0035082[axoneme assembly] GO:0035469[determination of pancreatic left/right asymmetry] GO:0036159[inner dynein arm assembly] GO:0042995[cell projection] GO:0044458[motile cilium assembly] GO:0060287[epithelial cilium movement involved in determination of left/right asymmetry] GO:0070286[axonemal dynein complex assembly] GO:0071907[determination of digestive tract left/right asymmetry] GO:0071910[determination of liver left/right asymmetry]
I3L477 [Direct mapping] Coiled-coil domain-containing protein 40
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Respiratory diseases Tracheobronchial diseases
I3L2X6 [Direct mapping] Coiled-coil domain-containing protein 40
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Respiratory diseases Tracheobronchial diseases
I3L292 [Direct mapping] Coiled-coil domain-containing protein 40
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Respiratory diseases Tracheobronchial diseases