CCDC120

Description

The CCDC120 (coiled-coil domain containing 120) is a protein-coding gene located on chromosome X.

CCDC120, also known as JM11 protein, is a protein encoded by the CCDC120 gene on human chromosome X. Although its exact function is unknown, its structure, conservation, and interactions have been studied computationally. The CCDC120 gene has six different transcript variants produced by alternative splicing and its mRNA transcript contains a 120bp repeat near the 3' end. CCDC120 has three identifiable paralogs in humans: FERM Domain Containing 4A, FERM domain Containing 4B, and C1orf106. It has orthologs in fish species like Danio rerio, Oryzias latipes, and Dicentrarchus labrax. The CCDC120 protein has four isoforms, ranging from 618 to 696 amino acids in length. Isoform 1, encoded by transcript 1, is the longest. CCDC120 has been shown to interact with Usher Syndrome 1C Binding Protein 1, CYTH2, MDFI, Centrosomal Protein 170kDa Pseudogene 1, and Keratin 15. Other interactions have been identified through coexpression and datamining.

CCDC120 is essential for the assembly of centriole subdistal appendages, structures that anchor microtubules during interphase. It works together with CCDC68 and other appendage components like ODF2, NIN, and CEP170 to build these appendages in a hierarchical manner. CCDC120 also plays a role in recruiting NIN and CEP170 to the centrosomes. In addition to its role in centrosome function, CCDC120 is involved in neurite growth. It helps localize CYTH2 to vesicles, facilitating their transport along neurites and subsequent ARF6 activation, which promotes neurite elongation.

CCDC120 is also known as JM11.

Associated Diseases

WES Whole Exome Sequencing