AK7

Cilia effects upon perturbation of AK7

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• 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 thymus, abnormal thymus morphology, preweaning lethality, incomplete penetrance, abnormal skin morphology, abnormal spleen morphology, abnormal ovary morphology, decreased circulating potassium level

Mouse ciliopathy phenotype:

enlarged heart, abnormal testis morphology, abnormal heart morphology, small testis, abnormal spine curvature, kyphosis

Ciliopathy associations

• Male Infertility
• Primary Ciliary Dyskinesia

Subcellular localization

cilia, flagella, nucleus

Functional category

• Ciliary assembly/disassembly
• Metabolism
• Reproduction & sperm

Function

Ultrastructural defects in 9+2 cilia, leading to PCD phenotype in mutant mice (PMID:18776131). Role in ATP production to power ciliary beating. Reduced expression levels in PCD patients (PMID:20537283). 1 single possibly pathogenic variant found in AK7 in 1 PCD patient (22801010). Homozygous missense mutation L673P in adenylate ki se 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. Mutations lead to spermatogenic failure in humans

Model organism evidence