Mouse anti-Human/Rat sapiens (Human) NEK9 Monoclonal Antibody

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)

Subcellular Location

Cytoplasm; Nucleus

Disease Association

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. [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. [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). [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Most abundant in heart, liver, kidney and testis. Also expressed in smooth muscle cells and fibroblasts

Subunit

Homodimer; homodimerization is required to activate NEK7 (PubMed:23482567, PubMed:26522158). Binds to Ran GTPase (PubMed:12101123). Has a greater affinity for Ran-GDP over Ran-GTP (PubMed:12101123). Interacts with SSRP1 and SUPT16H, the 2 subunits of the FACT complex (PubMed:14660563). Interacts with DYNLL1; phosphorylation at Ser-944 strongly reduces DYNLL1 binding (PubMed:23482567)

• Holland P.M. et al. Purification, cloning, and characterization of Nek8, a novel NIMA-related kinase, and its candidate substrate Bicd2. — J. Biol. Chem. (2002)
• Roig J. et al. Nercc1, a mammalian NIMA-family kinase, binds the Ran GTPase and regulates mitotic progression. — Genes Dev. (2002)
• Ohara O. et al. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. — DNA Res. (2002)
• Heilig R. et al. The DNA sequence and analysis of human chromosome 14. — Nature (2003)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Belham C. et al. A mitotic cascade of NIMA family kinases. Nercc1/Nek9 activates the Nek6 and Nek7 kinases. — J. Biol. Chem. (2003)
• Tan B.C.-M. et al. Nek9, a novel FACT-associated protein, modulates interphase progression. — J. Biol. Chem. (2004)
• Beausoleil S.A. et al. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. — Nat. Biotechnol. (2006)