Cam Kinase (CASK) Human Cellexp Recombinant Protein

This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

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

Chromosomal Location of Human Ortholog: Xp11.4

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

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