TTLL1

TTL family tubulin polyglutamylase complex subunit L1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000100271
UniProt:
O95922
OMIM:
608955
Synonyms:
C22ORF7, PGS3, TPGS3

Cilia effects upon perturbation of TTLL1

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:
abnormal tail movements, increased mean corpuscular hemoglobin concentration, increased lean body mass, increased startle reflex, decreased hemoglobin content, increased total body fat amount, preweaning lethality, incomplete penetrance, increased ige level

Subcellular localization

cilia

References: PMID:20442420

Functional category

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

Function

Involved in the post- translational polyglutamylation of tubulin in axonemal within cilia and flagella, this glutamylation is required to generate a curved cilia waveform. Essential for normal motility of respiratory ciliary and for the biogenesis and integrity of sperm flagella, as PCD phenotype is seen in KO mice (20442420).