TTLL1
Description
The TTLL1 (TTL family tubulin polyglutamylase complex subunit L1) is a protein-coding gene located on chromosome 22.
TTLL1, also known as Tubulin polyglutamylase TTLL1, is an enzyme encoded by the TTLL1 gene in humans. It is a probable tubulin polyglutamylase.
TTLL1 acts as a catalytic subunit within a polyglutamylase complex. This complex modifies tubulin by attaching glutamate side chains to specific glutamate residues in the tubulin's C-terminal tail. TTLL1 is likely involved in extending these side chains rather than initiating the process. It modifies both alpha- and beta-tubulins, favoring alpha-tubulin. Unlike other polyglutamylases, TTLL1 requires interaction with other proteins for its catalytic activity, suggesting a lack of autonomous activity domains. TTLL1 participates in the neuronal tubulin polyglutamylase complex, mediating polyglutamylation of cilia and flagella, essential for their formation and movement. This function impacts respiratory motile cilia by regulating their beating asymmetry. TTLL1 is crucial for sperm flagella biogenesis, movement, and male fertility. It also plays a role in KLF4 glutamylation, which inhibits its ubiquitination, leading to somatic cell reprogramming, maintenance of pluripotency, and embryonic development.
TTLL1 is also known as C22orf7, HS323M22B, TPGS3.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 65
- spermatogenic failure 51
- spermatogenic failure, X-linked, 3
- spermatogenic failure 72
- spermatogenic failure 39
- spermatogenic failure 42
- partial chromosome Y deletion
- deafness-infertility syndrome
- spermatogenic failure 40
- spermatogenic failure 27
- spermatogenic failure 46
- spermatogenic failure 18
- spermatogenic failure 47
- spermatogenic failure 45
- spermatogenic failure 43
- spermatogenic failure 49
