InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CCDC65

Summary

InnateDB Protein

IDBP-30557.6

Last Modified

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

Gene Symbol

CCDC65

Protein Name

coiled-coil domain containing 65

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000312706

InnateDB Gene

IDBG-30555 (CCDC65)

Protein Structure

UniProt Annotation

Function

May play a role in motile cilia function, possibly by acting on the assembly of the nexin-dynein regulatory complex. {ECO:0000269PubMed:24094744}.

Subcellular Localization

Disease Associations

Ciliary dyskinesia, primary, 27 (CILD27) [MIM:615504]: 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. {ECO:0000269PubMed:24094744}. Note=The disease is caused by mutations affecting the gene represented in this entry. Cilia ultrastructure show normal outer dynein arms, radial spokes and central pairs, but a reduction in inner dynein arms and nexin links. In 5%-15% of cilia, microtubules are disorganized. Nasal epithelial cilia reveal a stiff, dyskinetic cilia waveform.

Tissue Specificity

Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level). {ECO:0000269PubMed:17089017}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Protein Structure and Domains

PDB ID

InterPro

PFAM

PRINTS

PIRSF

SMART

TIGRFAMs