TTLL3

tubulin tyrosine ligase like 3

Tier: Gold Standard Ciliary Genes

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

References: PMID:41071877

Subcellular localization

basal body, cilia

References: PMID:19531357, PMID:21262966, PMID:25180231

Functional category

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

Function

Functions in posttranslational 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).