NDEL1 Human
Description
Product Specs
Product Science Overview
NDEL1 was first cloned from a human fetal brain cDNA library using mouse Lis1 (PAFAH1B1) as bait in a yeast two-hybrid screen . The deduced protein consists of 345 amino acids with a calculated molecular mass of 38.4 kDa . It contains a coiled-coil motif and several potential phosphorylation sites for casein kinase II, protein kinase C, and CDK5 . NDEL1 shares about 50% identity with mouse and human NUDE proteins .
Western blot analysis has shown that NDEL1 is abundantly expressed in the brain and testis, with much lower expression in the heart, liver, kidney, and skeletal muscle . In the brain, NDEL1 and Lis1 are found in fractions enriched for postsynaptic density proteins . Immunostaining of embryonic mouse brain sections revealed staining of migrating neurons and thalamocortical axons in the developing cerebral cortex . In COS-7 cells, endogenous Lis1 and NDEL1 colocalize at centrosome-like structures near the nucleus and are prominent at the center of the interphase microtubule array .
NDEL1 is essential for mitosis and neurodevelopment . It interacts with cytoplasmic dynein intermediate chains, heavy chains, and light-intermediate chains . Overexpression of mouse Lis1 in COS-7 cells causes a redistribution of transfected NDEL1 . Biochemical and mutation analyses have revealed that NDEL1 is phosphorylated on three sites by CDK5 . Overexpression of a phosphorylation-minus NDEL1 mutant or inhibition of CDK5 produces neuritic swellings in rat brain cortical neurons .
NDEL1 has been implicated in a range of mental health measures and neurodevelopmental conditions . Copy number variations (CNVs) at the 16p13.11 chromosomal locus, which contains the NDE1 gene, have been associated with intellectual disability, autism, attention deficit hyperactivity disorder, schizophrenia, and epilepsy . Although the 17p13.1 locus, where NDEL1 resides, has not been directly implicated in brain disorders through CNV analysis, the functional roles of NDE1 and NDEL1 through interaction with Disrupted In Schizophrenia 1 (DISC1) suggest their importance in mental health .
