SLMAP

Cilia effects upon perturbation of SLMAP

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.78) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.11) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=564, lfc=-3.16) PMID:30270045

Phenotypes

Mouse phenotype:

abnormal embryo size, abnormal tail morphology, abnormal head size, abnormal limb morphology, preweaning lethality, complete penetrance, cleft palate; abnormal embryo size; abnormal tail morphology; abnormal head size; abnormal limb morphology; preweaning lethality; complete penetrance; abnormal head shape; cleft palate

Mouse ciliopathy phenotype:

abnormal head shape

Subcellular localization

cell membrane, centrosome, cilia associated gene, endoplasmic reticulum

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Muscle contraction & physiology; Muscle contraction & physiology; Metabolism

Function

SLMAP3 is essential for mouse embryogenesis through novel mechanisms involving the primary cilium/PCP and protein stability independent of Hippo sig lling ( 39417621).; Constituent of the STRIPAK complex. Essential for organogenesis through mechanisms involving primary cilia formation/PCP signaling. Loss leads to polycystic kidneys, a ciliopathy manifestation(39417621).

Model organism evidence