Version 5.4
Homo sapiens Gene: CCDC40
Summary
InnateDB Gene IDBG-71336.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CCDC40
Gene Name coiled-coil domain containing 40
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000141519
Encoded Proteins
IDBP-71338
coiled-coil domain containing 40
IDBP-71340
coiled-coil domain containing 40
IDBP-71342
coiled-coil domain containing 40
IDBP-235142
coiled-coil domain containing 40
IDBP-760574
IDBP-757965
IDBP-758144
IDBP-761734
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:80036632-80100613
Strand Forward strand
Band q25.3
Transcripts
ENST00000374877 ENSP00000364011
ENST00000269318 ENSP00000269318
ENST00000374876 ENSP00000364010
ENST00000397545 ENSP00000380679
ENST00000572253
ENST00000576033 ENSP00000459489
ENST00000572270
ENST00000576241
ENST00000573903
ENST00000575431
ENST00000574099 ENSP00000460002
ENST00000571028 ENSP00000461034
ENST00000574933
ENST00000574799
ENST00000573474 ENSP00000460432
ENST00000572083
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0001947 heart looping
GO:0003341 cilium movement
GO:0003351 epithelial cilium movement
GO:0003356 regulation of cilium beat frequency
GO:0030324 lung development
GO:0035469 determination of pancreatic left/right asymmetry
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
Cellular Component
GO:0005737 cytoplasm
GO:0005929 cilium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039963
View Gene Order
ENSBTAG00000016017
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.202542 Hs.690836
RefSeq NM_001243342 NM_017950 XM_005257491 XM_005257492
HUGO
OMIM
CCDS CCDS42395 CCDS58604
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca