TTLL4

tubulin tyrosine ligase like 4

Ensembl:
ENSG00000135912
UniProt:
Q14679
OMIM:
618738
Synonyms:
KIAA0173

Cilia effects upon perturbation of TTLL4

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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:
increased bone mineral content, increased circulating ldl cholesterol level, increased circulating hdl cholesterol level
Mouse ciliopathy phenotype:
abnormal reti morphology, increased circulating alanine transamise level

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

TTLL4 is present in cilia and in some cells also at the basal bodies (17499049).

Model organism evidence

C. elegans (2 references)

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

Cilia, which are conserved organelles that play important diverse roles in animal development and sensation, contain axonemes comprising microtubules that are especially prone to PTMs.

PMIDs: 33064774, 21982591

Mus musculus (1 reference)

Cilia, which are conserved organelles that play important diverse roles in animal development and sensation, contain axonemes comprising microtubules that are especially prone to PTMs.

PMIDs: 21982591

Danio rerio (1 reference)

Similarly, knockdown of ttll6 strongly reduced cilia tubulin glutamylation but only partially affected cilia structure and motility.

PMIDs: 21262966