SMCR8

SMCR8-C9orf72 complex subunit

Ensembl:
ENSG00000176994
UniProt:
Q8TEV9
OMIM:
617074
Synonyms:
DENND8A, FLJ34716

Cilia effects upon perturbation of SMCR8

Cilia number / % ciliated:
Increased Cilia Number/Decreased cilia number
Loss-of-function effect:
Longer cilia

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.35) 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=387, lfc=-2.30) PMID:30270045

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • T cell biology
  • Protein processing & maturation

Function

Immunofluorescence staining showed that the average incidence of spontaneous primary ciliogenesis was significantly higher in both C9KO cells and S8KO cells than in WT cells. Moreover, under serum-starvation conditions, the percentage of ciliated cells increased dramatically in C9KO cells and S8KO cells compared with WT cells . We also measured the primary cilium length in cells cultured with or without serum. Both C9KO and S8KO cells exhibited primary cilia with an increased average length. Consistently, overexpressing C9orf72 or SMCR8 inhibited primary ciliogenesis" (PMID: 38064514)