TTLL11
tubulin tyrosine ligase like 11
- Ensembl:
- ENSG00000175764
- UniProt:
- Q8NHH1
- OMIM:
- 620694
- Synonyms:
- BA244O19.1, C9ORF148, C9ORF20, TTLL11-IT1
Cilia effects upon perturbation of TTLL11
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse phenotype:
- abnormal spleen morphology, abnormal skin morphology
- Mouse ciliopathy phenotype:
- abnormal heart morphology, enlarged heart
- Human ciliopathy phenotype:
- adolescent idiopathic scoliosis (spine)
Ciliopathy associations
- Adolescent Idiopathic Scoliosis
Subcellular localization
basal body
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
Function
Ttll1p showed a chain-initiating activity and disruption of the TTLL1 and TTLL9 genes decreased the rates of cell multiplication and phagocytosis(18586949).
Model organism evidence
C. elegans (2 references)
In humans, NEK10 mutation causes bronchiectasis, an airway and mucociliary transport disorder caused by defective motile cilia.
elegans cilia, the deglutamylase CCPP-1 affects ciliary ultrastructure, localization of the TRP channel PKD-2 and the kinesin-3 KLP-6, and velocity of the kinesin-2 OSM-3/KIF17, whereas a cell-specific α-tubulin isotype regulates ciliary ultrastructure, intraflagellar transport, and ciliary func