KATNAL1

katanin catalytic subunit A1 like 1

Ensembl:
ENSG00000102781
UniProt:
Q9BW62
OMIM:
614764
Synonyms:
MGC2599

Cilia effects upon perturbation of KATNAL1

Loss-of-function effect:
Abnormal / altered cilia

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • 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:
pallor, preweaning lethality, complete penetrance, abnormal spleen morphology, enlarged lymph nodes, preweaning lethality, incomplete penetrance, enlarged uriry bladder, abnormal skin morphology, decreased mean corpuscular volume, increased mean corpuscular hemoglobin concentration
Mouse ciliopathy phenotype:
abnormal lens morphology, abnormal reti blood vessel morphology, cataract, enlarged kidney, abnormal reti vasculature morphology

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • Reproduction & sperm
  • Cilia length regulation

Function

Role in neuro l migration, neuro l morphology and ependymal ciliary function (28373692). Regulates microtubule dy mics in Sertoli cells, a process that is essential for spermiogenesis and male fertility (22654668) Furthermore we demonstrate defects in the motile cilia of the ventricular ependymal cells of mutants, suggesting a role for Katnal1 in the development of ciliary function. We found that the ciliary beat frequency (CBF) of Katnal1¹ᴴ/¹ᴴ animals was significantly attenuated compared to wild-type (CBF: wildtype = 22.39 ± 0.94 Hz, Katnal1¹ᴴ/¹ᴴ = 14.25 ± 0.92 Hz, P = 0.0001). Cilia measurements showed no significant differences in average cilia length between genotypes (average cilia length: wild type = 6.22 ± 0.86 µm, Katnal1¹ᴴ/¹ᴴ = 6.54 ± 0.94 µm, P = 0.303). However in Katnal1¹ᴴ/¹ᴴ samples we noted the presence of both long and short cilia … ciliary abnormalities including bifurcated cilia, abnormal kinks & bends, and swellings along the length of the cilia. (28373692)

Model organism evidence

Drosophila (1 reference)

Microtubule severing is a biochemical reaction that generates an internal break in a microtubule and regulation of microtubule severing is critical for cellular processes such as ciliogenesis, morphogenesis, and meiosis and mitosis.

PMIDs: 25886649