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Rabbit Anti-NEK1/FITC Conjugated antibody
background:
The protein encoded by this gene is a serine/threoninekinase involved in cell cycle regulation. The encoded protein isfound in a centrosomal complex with FEZ1, a neuronal protein thatplays a role in axonal development. Defects in this gene are acause of polycystic kidney disease (PKD). Several transcriptvariants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2010].
Function:
Phosphorylates serines and threonines, but also appearsto possess tyrosine kinase activity. Implicated in the control ofmeiosis (By similarity). Involved in cilium assembly.
Subunit:
Binds to SPERT (By similarity).
Subcellular Location:
Nucleus (Probable). Cytoplasm, cytoskeleton,centrosome (By similarity). Note=Associated with the pericentriolarmaterial. Localizes to centrosome during interphase and mitosis (Bysimilarity).
Tissue Specificity:
High fetal expression in the brain and kidney.
DISEASE:
Defects in NEK1 are the cause of short rib-polydactylysyndrome type 2 (SRPS2) [MIM:263520]. A lethal skeletal dysplasiacharacterized by markedly short ribs, short limbs, polydactyly, andmultiple anomalies including a narrow thorax with hypoplasticlungs, extreme polysyndactyly, dysproportionate dwarfism, mediancleft lip and palate, a ventriculoseptal defect and cystic kidneys.The radiographic hallmarks include shortened and horizontal ribs,squared scapulae and elevated clavicles with lateral kinking,normal spine and pelvis configuration, and shortening of the bonesof all four extremities, with extreme reduction of tibial bonelength.
Similarity:
Belongs to the protein kinase superfamily. NEK Ser/Thrprotein kinase family. NIMA subfamily.
Contains 1 protein kinase domain.
Database links:
Entrez Gene: 4750 Human
Entrez Gene: 3604 Mouse
Omim: 604588 Human
SwissProt: Q96PY6 Human
SwissProt: P51954 Mouse
Unigene: 481181 Human
Unigene: 486881 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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