TAPT1

transmembrane anterior posterior transformation 1

Ensembl:
ENSG00000169762
UniProt:
Q6NXT6
OMIM:
612758
Synonyms:
FLJ90013

Cilia effects upon perturbation of TAPT1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.55) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

  • Complex Lethal Osteochondrodysplasia

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • T cell biology
  • ECM & connective tissue

Function

Regulates intracellular protein trafficking and organisation of cellular organelles, it could also play a role in ciliary assembly and sig ling. Defective TAPT1 mislocalises to the cytoplasm, disrupts Golgi morphology, trafficking and normal ciliogenesis. Knockdown of tapt1b in zebrafish induces severe malformations of the craniofacial skeleton (26365339).

Model organism evidence

Mus musculus (1 reference)

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

PMIDs: 26365339