TPR

translocated promoter region, nuclear basket protein

Ensembl:
ENSG00000047410
UniProt:
P12270
OMIM:
189940

Cilia effects upon perturbation of TPR

Ciliogenesis screen results (5 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
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=326, lfc=-3.76) PMID:30270045

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • T cell biology
  • Viral interactions
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transcription regulation

Function

The TPR protein mutant oval/ift88 shows polyglutamylation extending to the tips of cilia ( 17761526).

Model organism evidence

C. elegans (1 reference)

IFT88-KAP interaction defines a conserved mechanism for kinesin-2-IFT coupling.

PMIDs: 40967203

Drosophila (1 reference)

Mutations of these genes in humans cause the motile ciliopathy, Primary Ciliary Dyskinesia (PCD), but their different roles are not completely known.

PMIDs: 35873488