ATP2B1

Cilia effects upon perturbation of ATP2B1

Ciliogenesis screen results (4 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.29) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.3) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=65, lfc=0.77) PMID:30270045

Phenotypes

Mouse phenotype:

abnormal epididymis morphology, absent vibrissae, preweaning lethality, incomplete penetrance, enlarged epididymis, abnormal vibrissa morphology, embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance

Mouse ciliopathy phenotype:

decreased circulating calcium level, abnormal auditory brainstem response

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Metabolism
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Muscle contraction & physiology

Function

The plasma membrane Ca2+-ATPase 1 (PMCA1) PMCAs 1 and 2 labeled cilia, dendritic knob, dendrite, and cell body, and PMCA4 consistently showed labeling of cilia, dendritic knob, and cell body with little staining of the dendrite(16855061).