NEK9
Developmental stage
Expression varied mildly across the cell cycle, with highest expression observed in G1 and stationary-phase cells.
Domain
Dimerizes through its coiled-coil domain.
Function
Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation (PubMed:12101123, PubMed:12840024, PubMed:14660563, PubMed:19941817). Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2 (PubMed:11864968). Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues (PubMed:11864968). Important for G1/S transition and S phase progression (PubMed:12840024, PubMed:14660563, PubMed:19941817). Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively (PubMed:12840024, PubMed:14660563, PubMed:19941817, PubMed:26522158).
Involvement in disease
Lethal congenital contracture syndrome 10
LCCS10
A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
None
The disease is caused by variants affecting the gene represented in this entry.
Nevus comedonicus
NC
A rare type of epidermal nevus characterized by closely arranged, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material, and their appearance resembles black dots. NC may be non-pyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Most commonly it affects the face and neck area and, by exception, other anatomical regions, including genital area, palms, and soles. NC lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid.
None
The disease is caused by variants affecting the gene represented in this entry.
Arthrogryposis, Perthes disease, and upward gaze palsy
APUG
An autosomal recessive, syndromic form of arthrogryposis, a disease characterized by persistent joints flexure or contracture. APUG patients manifest an unusual combination of arthrogryposis, upward gaze palsy, and avascular necrosis of the hip (Perthes disease).
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Autophosphorylated on serine and threonine residues (PubMed:27153399). When complexed with FACT, exhibits markedly elevated phosphorylation on Thr-210. During mitosis, not phosphorylated on Thr-210. Phosphorylated by CDK1 in vitro (PubMed:14660563).
Sequence Similarities
Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.
Tissue Specificity
Most abundant in heart, liver, kidney and testis. Also expressed in smooth muscle cells and fibroblasts.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
KIAA1995, NEK8, NERCC, NEK9, Serine/threonine-protein kinase Nek9, Nercc1 kinase, Never in mitosis A-related kinase 9, NimA-related kinase 8, NimA-related protein kinase 9, Nek8