SUFU

Cilia effects upon perturbation of SUFU

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.38) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=2, lfc=2.22) PMID:30270045

Phenotypes

Mouse phenotype:

abnormal forebrain development, preweaning lethality, complete penetrance, embryonic growth retardation, pallor, pale liver, abnormal liver size, pale yolk sac, abnormal hindbrain development, abnormal placenta size, abnormal limb bud morphology, abnormal embryo size, decreased total body fat amount, abnormal stomach morphology, increased startle reflex, abnormal eye morphology, embryonic lethality prior to tooth bud stage, cardiovascular system phenotype, enlarged lymph nodes

Mouse ciliopathy phenotype:

abnormal neural tube closure, abnormal midbrain development

Human ciliopathy phenotype:

Joubert syndrome; Joubert syndrome 32

Ciliopathy associations

• Joubert Syndrome
• Medulloblastoma

Subcellular localization

cilia, lysosomes, nucleus

Functional category

• Ciliary assembly/disassembly
• Reproduction & sperm
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Transcription regulation

Function

Negative regulator of Gli, essential for repressing Hh sig ling. Sufu prevents nuclear translocation of Gli proteins. PKA inhibits Sufu-Gli complexes and blocks their ciliary localisation (20956384, 21209912). Mutations have been associated with Joubert syndrome, cranio-facial dysmorphisms and congenital ocular motor apraxia (33024317, 28965847).