ROBO1

roundabout guidance receptor 1

Ensembl:
ENSG00000169855
UniProt:
Q9Y6N7
OMIM:
602430
Synonyms:
DUTT1, FLJ21882, SAX3

Cilia effects upon perturbation of ROBO1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.60) 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:
no spontaneous movement, abnormal behavior, preweaning lethality, incomplete penetrance, decreased thigmotaxis, abnormal placenta morphology, decreased locomotor activity, preweaning lethality, complete penetrance
Human ciliopathy phenotype:
neurooculorenal syndrome; congenital anomaly of kidney and urinary tract

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Neurogenesis & migration
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Axon guidance & growth
  • Transcription regulation

Function

ROBO1 has localized in primary cilia.