ENPP1

Cilia effects upon perturbation of ENPP1

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• 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:

abnormal skin coloration, abnormal scapula morphology, increased freezing behavior, small thymus, abnormal sinus arrhythmia, vertebral fusion, increased airway resistance, abnormal joint morphology, abnormal rib morphology, decreased locomotor activity, abnormal gait, increased anxiety-related response, decreased body weight, decreased exploration in new environment, increased circulating alkaline phosphatase level, decreased heart rate, abnormal startle reflex, abnormal mammary gland morphology, abnormal vertebrae morphology, long tibia, enlarged spleen, lordosis, abnormal spleen morphology, prolonged rr interval, increased fasting circulating glucose level, cardiovascular system phenotype, abnormal thoracic cage shape, abnormal thymus morphology

Mouse ciliopathy phenotype:

abnormal heart morphology, female infertility, abnormal cranium morphology, abnormal spine curvature, male infertility, enlarged heart

Human ciliopathy phenotype:

inherited obesity

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Metabolism
• T cell biology
• Signaling (Hedgehog, GPCRs, ion channels)
• Transcription regulation

Function

Ciliary EVs carry nucleic acid-binding SID-2 and MCM-3 and phosphodiesterase ENPP-1. The male vas deferens transfers ENPP-1 to the hermaphrodite uterus during mating (35334227).