KATNB1

Official Full Name

katanin regulatory subunit B1

Organism

Homo sapiens

GeneID

10300

Background

Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]

Synonyms

KAT; LIS6;

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Detailed Information

Recent Research

The microtubule-severing protein complex katanin is composed two subunits, the ATPase subunit, p60/KATNA1, and the noncatalytic regulatory subunit, p80/KATNB1. In developing neurons, Katanin localizes to microtubules and centrosomes and is essential for microtubule shortening and release.KATNA1 is a member of the AAA (ATPases Associated with diverse cellular Activities) domain containing protein family, whereasKATNB1 binds to p60 and targets it to subcellular structures including the centrosome, further mediating its interactions with Dynein, LIS1, and NDEL1. It is reported that KATNB1 is linked to infertility, regulation of centriole and cilia formation in ﬁsh and mammals, as well as neocortical brain development. KATNB1 is ubiquitously expressed during embryonic development, including germ cells in humans and mouse, mitotic/meiotic spindles and cilia. Furthermore, null and hypomorphic KATNB1 gene mutations show a novel correlation between KATNB1 dysregulation and the development of impaired left–right signaling, including cardiac malformations.

Some reports have shown that loss of KATNB1 orthologs in zebrafish and flies results in microcephaly, recapitulating the human phenotype. In the developing Drosophila optic lobe, KATNB1 loss specifically affects the asymmetrically dividing neuroblasts, which display supernumerary centrosomes and spindle abnormalities during mitosis, leading to cell cycle progression delays and reduced cell numbers. Furthermore, KATNB1depletion results in dendritic arborization defects in sensory and motor neurons, affecting neural architecture. And a missense mutation in the highly conserved WD40 domain of KATNB1 has been shown to cause azoospermia and male sterility in mice.

It has been found that deleterious mutations in KATNB1 that result in a spectrum of cerebral cortical development (MCD) disorders, including microcephaly co-occurring with lissencephaly or less severe neuronal migration abnormalities such as periventricular or subcortical heterotopias. In addition, recent research has shown that KATNB1 plays a role in human spermatogenesis and the genetic variants in KATNB1 are associated with oligoasthenoteratozoospermia (OAT) in humans. KATNB1 was present during spermatid development, and in particular localized to the microtubules of the manchette, a structure required for sperm head shaping.

References:

O'Donnell L, et al. KATNB1 in the human testis and its genetic variants in fertile and oligoasthenoteratozoospermic infertile men. Andrology, 2015, 2(6):884-891.
Furtado M B, et al. Mutations in the Katnb1 gene cause left‐right asymmetry and heart defects. Dev Dyn, 2017, 246(12).
Mishra-Gorur K, et al. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron, 2014, 84(6):1226-1239.

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