TTLL11
tubulin tyrosine ligase like 11
Tier: Gold Standard Ciliary Genes
- 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
- Human ciliopathy phenotype:
- adolescent idiopathic scoliosis (spine)
Ciliopathy associations
- Adolescent Idiopathic Scoliosis
References: PMID:34040021
Subcellular localization
basal body
References: PMID:34040021
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
Function
A rare TTLL11 insertion (c.1569_1570insTT) causes idiopathic scoliosis in a five-generation UK family. Patient cells have fewer, shorter and less polyglutamylated primary cilia, and ttll11 knockdown in zebrafish affects spine development and ciliary function in the retina (PMID 34040021).