PRKAB1

Cilia effects upon perturbation of PRKAB1

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.60) 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, decreased hemoglobin content, decreased fasting circulating glucose level, abnormal spleen morphology, decreased mean corpuscular volume, increased spleen weight, hyperplasia, increased red blood cell distribution width, abnormal freezing behavior, decreased circulating hdl cholesterol level, decreased hematocrit, decreased erythrocyte cell number, decreased mean corpuscular hemoglobin concentration, decreased mean corpuscular hemoglobin, impaired glucose tolerance, abnormal epididymis morphology, decreased circulating phosphate level, preweaning lethality, incomplete penetrance, increased memory-marker cd4-negative nk t cell number, decreased bone mineral density, decreased bone mineral content, increased lung compliance, increased memory-marker gamma-delta t cell number, decreased ly6c-positive mature nk cell number, decreased total reti thickness, no spontaneous movement, increased heart rate, decreased body weight, enlarged thymus, decreased circulating cholesterol level, absent pin reflex, increased fasting circulating glucose level, decreased lymphocyte cell number, increased circulating alkaline phosphatase level, impaired contextual conditioning behavior, increased glycosylated hemoglobin level, abnormal reti inner nuclear layer morphology, decreased circulating chloride level, increased mean platelet volume, abnormal reti blood vessel pattern, decreased lung elastance, decreased circulating amylase level, shortened rr interval, anophthalmia, decreased circulating ldl cholesterol level, increased neutrophil cell number, abnormal response to new environment, enlarged epididymis, fibro-osseous lesion, decreased grip strength, decreased circulating iron level, abnormal thymus morphology

Mouse ciliopathy phenotype:

abnormal kidney morphology, increased circulating alanine transamise level, increased circulating bilirubin level, increased heart weight, abnormal lens morphology, enlarged heart, abnormal reti blood vessel morphology, enlarged testis, abnormal reti vasculature morphology, decreased kidney weight, abnormal testis morphology, enlarged kidney, cataract

Subcellular localization

cilia, cytosol, nucleus, transition zone

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

PRKAB1 has localized in transition zone.