TBC1D4

TBC1 domain family member 4

Tier: Gold Standard Ciliary Genes

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

References: PMID:33561422

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 maintenance during primary ciliogenesis (33561422).