DNMBP

Cilia effects upon perturbation of DNMBP

Cilia number / % ciliated:

Decreased cilia number

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect 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:

enlarged spleen, abnormal spleen morphology, hypertrophic tissue, increased prepulse inhibition, inflammation, hypertrophy, abnormal skin morphology, increased vertical activity, decreased startle reflex, extracellular matrix deposition

Mouse ciliopathy phenotype:

abnormal liver morphology, abnormal auditory brainstem response, small kidney, abnormal kidney morphology

Human ciliopathy phenotype:

Total congenital cataract

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation

Function

Role in ciliogenesis and tubulogenesis, acting as a guanine nucleotide exchange factor that regulates Cdc42 activity. Depletion results in an absence of cilia, with impaired apical polarisation. Controller of left-right patterning (26895965). TUBA/Cdc42/Par6A complex is required to ensure the formation of a single apical domain during enterocyte polarization ( 30408122). Knockdown of Dnmbp in MDCK cells leads to a decrease in cilia.