TTLL3
tubulin tyrosine ligase like 3
- Ensembl:
- ENSG00000214021
- UniProt:
- Q9Y4R7
- OMIM:
- 619195
- Synonyms:
- DKFZP434B103, HOTTL
Cilia effects upon perturbation of TTLL3
- Cilia number / % ciliated:
- Decreased cilia number
- 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:
- decreased circulating potassium level
Ciliopathy associations
- Nonsyndromic Tetralogy of Fallot
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- T cell biology
- Reproduction & sperm
- Cell migration & adhesion
Function
Functions in posttranslatio l glycylation of . Required for either elongation or stability of axonemes (19531357). Depletion leads to shortening and loss of axonemes (21262966). Required for primary cilia formation and control of cell proliferation. Only glycylase expressed in colon (25180231).
Model organism evidence
Mus musculus (3 references)
Using Osr2-Cre;β-cateninfl/fl mice, we show that Wnt signaling is indispensable for mesenchymal cell proliferation and subsequently for myogenesis through mediating ciliogenesis.
Ttll3-/- mice lack glycylation in photoreceptors, which results in shortening of connecting cilia and slow retinal degeneration.