PAK3 est un gène codé par le symbole PAK3. Communément appelé aussi: Serine/threonine-protein kinase PAK 3; Beta-PAK; Oligophrenin-3; p21-activated kinase 3; PAK-3; OPHN3. PAK3 a une masse de 62.31kDa, une longueur d'acide aminé de 559, et est impliqué dans Mental retardation, X-linked 30.
Nous proposons 9 des anticorps contre PAK3, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, or cell cycle regulation. Plays a role in dendrite spine morphogenesis as well as synapse formation and plasticity. Acts as downstream effector of the small GTPases CDC42 and RAC1. Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates MAPK4 and MAPK6 and activates the downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration. Additionally, phosphorylates TNNI3/troponin I to modulate calcium sensitivity and relaxation kinetics of thin myofilaments. May also be involved in early neuronal development.
Résumé Entrez
The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified.
Spécificité tissulaire
Restricted to the nervous system. Highly expressed in postmitotic neurons of the developing and postnatal cerebral cortex and hippocampus.
Implication dans la maladie
Mental retardation, X-linked 30: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
Similitudes de séquence
Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
Modification post-traductionnelle
Autophosphorylated when activated by CDC42/p21.
Localisation cellulaire
Cytoplasm.
