TTLL3

Description

The TTLL3 (tubulin tyrosine ligase like 3) is a protein-coding gene located on chromosome 3.

TTLL3 (Tubulin tyrosine ligase-like family, member 3) is a protein encoded by the TTLL3 gene in humans.

TTLL3 is a monoglycylase enzyme that modifies alpha- and beta-tubulin by adding a single glycine to specific glutamate residues within the C-terminal tail of tubulin. This modification, known as monoglycylation, is distinct from the elongation step of polyglycylation. TTLL3 preferentially glycylates the beta-tail peptide over the alpha-tail, but this preference shifts towards the alpha-tail as beta-tail glutamylation increases. It competes with polyglutamylases for modification sites on beta-tubulin, resulting in an inverse relationship between glycylation and glutamylation. Together with TTLL8, TTLL3 contributes to the glycylation of microtubules in primary and motile cilia, crucial for their stability and function. TTLL3 is also involved in microtubule glycylation of primary cilia in the colon, regulating epithelial cell proliferation and playing a significant role in colon cancer development (PubMed:25180231). In collaboration with TTLL8, TTLL3 glycylates sperm flagella, controlling axonemal dynein motor activity, flagellar beat, sperm swimming direction, and male fertility.

TTLL3 is also known as HOTTL.

Associated Diseases

WES Whole Exome Sequencing