CASK Antibody – Rabbit Polyclonal

CASK: a MAGUK family protein and a protein kinase of the CAMK group. Contains one protein kinase domain, one guanylate kinase domain, two L27 domains, one PDZ domain and one SH3 domain. Plays a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TRB1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. Lacks the canonical DFG motif required for Mg++ binding, but retains protein kinase activity even without binding Mg++. Six alternatively spliced human isoforms have been described.

Protein type: EC 2.7.11.1; Protein kinase, CAMK; Kinase, protein; Adaptor/scaffold; Protein kinase, Ser/Thr (non-receptor); CAMK group; CASK family

Chromosomal Location of Human Ortholog: Xp11.4

Cellular Component: presynaptic membrane; nuclear lamina; nuclear matrix; focal adhesion; basolateral plasma membrane; cytoplasm; nucleolus; plasma membrane; basement membrane; intercellular junction; cytosol; actin cytoskeleton

Molecular Function: calmodulin binding; protein serine/threonine kinase activity; guanylate kinase activity; protein binding; neurexin binding; ATP binding

Biological Process: extracellular matrix organization and biogenesis; positive regulation of transcription from RNA polymerase II promoter; cell adhesion; negative regulation of cell-matrix adhesion; protein amino acid phosphorylation; nucleotide phosphorylation

Disease: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia; Fg Syndrome 4