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CASK
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, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Oligodendrocyte precursor cells, Inhibitory neurons)
Immune cell specificity
Immune cell enriched (basophil)
Cell line specificity
Low cell line specificity
Interaction
CASK and LIN7 form two mutually exclusive tripartite complexes with APBA1 or CASKIN1 (By similarity). Component of the brain-specific heterotrimeric complex (LIN-10-LIN-2-LIN-7 complex) composed of at least APBA1, CASK, and LIN7, which associates with the motor protein KIF17 to transport vesicles along microtubules (By similarity). Forms a heterotrimeric complex with DLG1 and LIN7B via their L27 domains (By similarity). Identified in a complex with ACTN4, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity). Part of a complex containing CASK, TBR1 and TSPYL2 (By similarity). Interacts with WHRN (By similarity). Interacts (via the PDZ, SH3 and guanylate kinase-like domains) with NRXN1 (via C-terminus) (By similarity). Interacts with CASKIN1, APBA1, LIN7(A/B/C) and L27 domain of DLG1 and isoform 2 of DLG4 (By similarity). Interacts with FCHSD2 (By similarity). Interacts with KIRREL3 (PubMed:19012874). Interacts with TBR1 (By similarity). Interacts with TSPYL2 (By similarity).
Molecular function
Calmodulin-binding, Kinase, Serine/threonine-protein kinase, Transferase
More Types Infomation
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- Derivation: Phage display library screening
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IHC, ICC
- Rabbit Anti-CASK Polyclonal Antibody (MRO-1717-CN) (MRO-1717-CN)
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- Species Reactivity: Human, Rat
- Type: Rabbit IgG
- Application: WB, IF, IHC, FC
- L27 domain scaffold protein anti-Human CASK (SLT-L119)
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- Scaffold Name: L27 domain
- Target: CASK
- Species Reactivity: Human
- Derivation: Yeast Two-hybrid
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For Research Use Only. Not For Clinical Use.