InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CCDC40

Summary

InnateDB Protein

IDBP-71340.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CCDC40

Protein Name

coiled-coil domain containing 40

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000269318

InnateDB Gene

IDBG-71336 (CCDC40)

Protein Structure

UniProt Annotation

Function

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39. {ECO:0000269PubMed:21131974}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Note=Localizes to cytoplasm and motile cilium. {ECO:0000250}.

Disease Associations

Ciliary dyskinesia, primary, 15 (CILD15) [MIM:613808]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:21131974}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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: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