TTLL5

tubulin tyrosine ligase like 5

Ensembl:
ENSG00000119685
UniProt:
Q6EMB2
OMIM:
612268
Synonyms:
KIAA0998, STAMP

Cilia effects upon perturbation of TTLL5

Cilia number / % ciliated:
No effect
Loss-of-function effect:
Decrease

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

Human ciliopathy phenotype:
cone-rod dystrophy

Ciliopathy associations

  • Cone-Rod Dystrophy
  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, centrosome, cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Recruited by ARL13B and FIP5 (30120249). Higher activity initiating glutamate chains than elongating them. Required for RPGRORF15 function as it seems to be highly selective (27162334). Essential for the correct function of sperm flagella. It might also be responsible for the tubulin polyglutami tion in the microtubule triplets of the centrioles, increasing the centriole stability. Mutations have been identified as cause of recessive reti l dystrophy (24791901), and reduced sperm motility and infertility in humans (28173158). TTLL5 localizes to photoreceptor connecting cilium; variants cause cone/cone-rod dystrophy. Glutamylase for tubulin in photoreceptor outer segment cilia. Macular sheen phenotype on SD-OCT characteristic.

Model organism evidence

C. elegans (1 reference)

In humans, NEK10 mutation causes bronchiectasis, an airway and mucociliary transport disorder caused by defective motile cilia.

PMIDs: 33064774

Mus musculus (1 reference)

A photoreceptor specific ORF15 variant of RPGR (RPGR(ORF15)), carrying multiple Glu-Gly tandem repeats and a C-terminal basic domain of unknown function, localizes to the connecting cilium where it is thought to regulate cargo trafficking.

PMIDs: 27162334