TTL

tubulin tyrosine ligase

Ensembl:: ENSG00000114999
UniProt:: Q8NG68
OMIM:: 608291
Synonyms:: MGC46235

Cilia effects upon perturbation of TTL

Loss-of-function effect:: Shorter cilia
Overexpression effect:: Decreased

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: preweaning lethality, complete penetrance, edema, decreased exploration in new environment

Subcellular localization

cilia associated gene

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation

Function

TTL controls microtubule modification and thereby indirectly regulates ciliogenesis and ciliary structure, but TTL itself is not physically located inside or on the cilium. It acts upstream by modifying α-tubulin, which cilia need to build their structure ( 35903547).

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