InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CCDC103

Summary

InnateDB Protein

IDBP-294863.5

Last Modified

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

Gene Symbol

CCDC103

Protein Name

coiled-coil domain containing 103

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000387252

InnateDB Gene

IDBG-54461 (CCDC103)

Protein Structure

UniProt Annotation

Function

Dynein-attachment factor required for cilia motility. {ECO:0000269PubMed:22581229}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000250}.

Disease Associations

Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]: 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:22581229}. 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
GO:0042803	protein homodimerization activity

Biological Process

GO:0001947	heart looping
GO:0003341	cilium movement
GO:0030030	cell projection organization
GO:0036158	outer dynein arm assembly
GO:0036159	inner dynein arm 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