TBC1D31

TBC1 domain family member 31

Ensembl:
ENSG00000156787
UniProt:
Q96DN5
Synonyms:
GM85, MGC21654, WDR67

Cilia effects upon perturbation of TBC1D31

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

Ciliogenesis screen results (2 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=118, lfc=0.51) PMID:30270045

Phenotypes

Mouse ciliopathy phenotype:
increased circulating bilirubin level, increased circulating creatinine level

Subcellular localization

centrosome, cilia

Functional category

  • Ciliary assembly/disassembly

Function

TBC1D31 has localized in cilia.