InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CCDC114

Summary

InnateDB Protein

IDBP-60250.6

Last Modified

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

Gene Symbol

CCDC114

Protein Name

coiled-coil domain containing 114

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000318429

InnateDB Gene

IDBG-60246 (CCDC114)

Protein Structure

UniProt Annotation

Function

Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms. {ECO:0000305PubMed:23261302, ECO:0000305PubMed:23261303}.

Subcellular Localization

Cell projection, cilium {ECO:0000269PubMed:23261303}.

Disease Associations

Ciliary dyskinesia, primary, 20 (CILD20) [MIM:615067]: 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. Patients may 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile. {ECO:0000269PubMed:23261302, ECO:0000269PubMed:23261303}. 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 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0036158

outer dynein arm assembly