TTC21A
tetratricopeptide repeat domain 21A
- Ensembl:
- ENSG00000168026
- UniProt:
- Q8NDW8
- OMIM:
- 611430
- Synonyms:
- IFT139A, STI2, THM2
Cilia effects upon perturbation of TTC21A
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
Ciliopathy associations
- Male Infertility
Subcellular localization
basal body, nucleoplasm
Functional category
- Motile cilium & axoneme; Non-motile cilium / primary cilium
Function
With ciliary axonemes and centrioles labeled with anti-Ac-α-tubulin and anti-γ-tubulin, respectively, we found that cilium length was reduced after Cep78, Ift20, or Ttc21a knockdown and could be rescued by exogenous expression of Cep78syn-HA, Ift20syn-Flag, and Ttc21asyn-Flag . Cep78, Ift20, and Ttc21a located in the base of the cilium (PMID: 36756949). The TTC21A-associated morphological abnormalities affect sperm flagella and head-tail conjunction. The detailed molecular contributions of TTC21A to sperm flagellar formation and intraflagellar transport need to be further investigated in future studies (PMID: 30929735).
Model organism evidence
Intraflagellar transport (IFT) proteins IFT20 and TTC21A are identified as interacting proteins of CEP78.
Here using mouse embryonic fibroblasts (MEF), we investigate the ciliary roles of two mammalian orthologues of Chlamydomonas IFT-A gene, IFT139, namely Thm1 (also known as Ttc21b) and Thm2 (Ttc21a).