NME7

Cilia effects upon perturbation of NME7

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.83) 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:

decreased circulating glucose level, preweaning lethality, incomplete penetrance, decreased circulating total protein level

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

centrosome, flagella

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• T cell biology
• Reproduction & sperm
• Protein processing & maturation
• Cell migration & adhesion

Function

It may regulate vesicular transport from the Golgi to the plasma membrane, its depletion inhibites Hh- stimulated accumulation of SMO in cilia (21289087). Plays a role in human laterality patterning (27060491). NME7 is a gamma-tubulin ring complex component that regulates microtubule-nucleating activity in centrosomes. It is also required for ciliary sig ling and protein trafficking to primary cilia (24807905).