AP4E1

Cilia effects upon perturbation of AP4E1

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.13) 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:

increased erythrocyte cell number, decreased mean corpuscular hemoglobin, hypoplasia, hyperactivity, abnormal sleep behavior, abnormal spleen morphology, increased hemoglobin content, increased lean body mass, decreased total reti thickness, increased startle reflex, decreased exploration in new environment, decreased vertical activity, decreased hemoglobin content, decreased respiratory quotient, abnormal inspiratory capacity, increased fasting circulating glucose level, increased circulating alkaline phosphatase level, decreased circulating alanine transamise level, increased bone mineral content, abnormal reti inner nuclear layer morphology, decreased thigmotaxis, decreased anxiety-related response, abnormal behavior, abnormal coat appearance, increased prepulse inhibition, preweaning lethality, incomplete penetrance, decreased mean corpuscular volume, increased grip strength, fibro-osseous lesion, increased circulating free fatty acids level, enlarged lymph nodes, cardiovascular system phenotype, increased cardiac muscle contractility, decreased circulating creatinine level, depletion, unresponsive to tactile stimuli, decreased grip strength, limb grasping, decreased total body fat amount, decreased mean corpuscular hemoglobin concentration, increased exploration in new environment, impaired contextual conditioning behavior, enlarged spleen, abnormal sinus arrhythmia, increased hematocrit, hyperplasia, process of degenerative change, decreased locomotor activity, decreased circulating serum albumin level, increased circulating sodium level, decreased circulating total protein level, increased red blood cell distribution width, decreased heart rate, abnormal vertebrae morphology, abnormal freezing behavior, decreased circulating triglyceride level, increased circulating creatine kise level, increased lung compliance, decreased circulating free fatty acids level, impaired glucose tolerance, decreased circulating glucose level, increased bone mineral density, decreased prepulse inhibition, decreased cardiac output, abnormal cholesterol homeostasis, decreased circulating chloride level, decreased heart rate variability, increased circulating amylase level, abnormal vertebral arch morphology

Mouse ciliopathy phenotype:

small testis, increased kidney weight, abnormal testis morphology, abnormal lens morphology, increased circulating aspartate transamise level, increased heart weight, abnormal kidney morphology

Human ciliopathy phenotype:

Severe intellectual disability and progressive spastic paraplegia

Subcellular localization

cilia associated gene

Functional category

• Ciliary assembly/disassembly

Function

Ap4e1 does not have an established role in cilia, the predicted protein interaction with OCRL1 is suggestive that Ap4e1 may be involved in ciliary assembly as OCRL1 is known to be involved in primary ciliary assembly( 25300351).