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CCDC40
HPA
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  • CCDC40
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

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.

CCDC40
Synonyms CFAP172, CILD15, FAP172, FLJ20753, FLJ32021, KIAA1640
Gene descriptioni

Full gene name according to HGNC.

Coiled-coil domain containing 40
Protein classi

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.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

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.

7
Ensembl ENSG00000141519 (version 109)
Entrez gene 55036
HGNC HGNC:26090
UniProt Q4G0X9 (UniProt - Evidence at protein level)
neXtProt NX_Q4G0X9
GeneCards CCDC40
Antibodypedia CCDC40 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

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 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.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
CCDC40-201
ENSP00000269318
ENST00000269318
Q4G0X9
[Direct mapping] Coiled-coil domain-containing protein 40
Show all
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: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]
Show all
579 aa
64 kDa
No 0
CCDC40-202
ENSP00000364010
ENST00000374876
Q4G0X9
[Direct mapping] Coiled-coil domain-containing protein 40
Show all
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]
Show all
478 aa
52.3 kDa
No 0
CCDC40-203
ENSP00000364011
ENST00000374877
Q4G0X9
[Direct mapping] Coiled-coil domain-containing protein 40
Show all
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]
Show all
1030 aa
116.8 kDa
No 0
CCDC40-204
ENSP00000380679
ENST00000397545
Q4G0X9
[Direct mapping] Coiled-coil domain-containing protein 40
Show all
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]
Show all
1142 aa
130.1 kDa
No 0
CCDC40-205
ENSP00000461034
ENST00000571028
I3L477
[Direct mapping] Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Respiratory diseases
   Tracheobronchial diseases
Show all
GO:0035082 [axoneme assembly]
Show all
83 aa
9.3 kDa
No 0
CCDC40-211
ENSP00000460002
ENST00000574099
I3L2X6
[Direct mapping] Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Respiratory diseases
   Tracheobronchial diseases
Show all
126 aa
13.5 kDa
No 0
CCDC40-215
ENSP00000459489
ENST00000576033
I3L292
[Direct mapping] Coiled-coil domain-containing protein 40
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Respiratory diseases
   Tracheobronchial diseases
Show all
99 aa
10.7 kDa
No 0

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