TBC1D4

TBC1 domain family member 4

Ensembl:
ENSG00000136111
UniProt:
O60343
OMIM:
612465
Synonyms:
AS160, DKFZP779C0666, KIAA0603

Cilia effects upon perturbation of TBC1D4

Cilia number / % ciliated:
Decreased cilia number
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:
increased circulating sodium level, decreased circulating chloride level, increased mean corpuscular volume, increased hematocrit, decreased leukocyte cell number

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Ciliary membrane

Function

TBC1D4 is a centrosome- and satellite-localized protein,a weak GAP for RAB19, that interacts with RAB19 to regulate ciliary membrane growth or CC mainte nce during primary ciliogenesis (33561422).

Model organism evidence

Mus musculus (1 reference)

Previously, we reported a mutation in a motile cilia gene, Ccdc39 that develops neonatal progressive hydrocephalus (prh) with inflammatory microglia.

PMIDs: 37296418