TBC1D7

TBC1 domain family member 7

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000145979
UniProt:
Q9P0N9
OMIM:
612655
Synonyms:
DJ257A7.3, FLJ32666, TBC7

Ciliogenesis screen results (3 screens)

  • 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:
abnormal lymph node morphology, preweaning lethality, incomplete penetrance, enlarged spleen, decreased exploration in new environment

Subcellular localization

basal body, cilia

References: PMID:17646400

Functional category

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

Function

GTPase-activating protein that controls specific Rabs involved in primary cilium formation. TBC1D7 specifically acts on Rab17.