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Rabbit Anti-CASK/FITC Conjugated antibody
background:
The MAGUK (membrane-associated guanylate kinase homologs) family of proteins contain multiple protein-binding domains and are involved in cell junction organization, tumor suppression, and signaling. CASK (also designated LIN-2) belongs to a MAGUK subfamily which is characterized by a novel domain structure that consists of a calcium/calmodulin- dependent protein kinase domain followed by PDZ, SH3 and guanylate kinase-like (GUK) domains. CASK is expressed in rat brain where it binds to cell-surface proteins, such as neurexin and syndecan, and is thought to be involved in signaling at neuronal synapses. CASK translocates to the nucleus and interacts with Tbr-1 to form a complex, which binds to a specific DNA sequence (the T-element), and induces the expression of specific genes, including Reelin. CASK displays a transcription regulation function, which appears crucial for cerebrocortical development.
Function:
Multidomain scaffolding protein with 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.
Subunit:
Binds WHRN and NRXN1 cytosolic tail. Interacts with CASKIN1, APBA1, LIN7(A/B/C) and L27 domain of DLG1 and isoform 2 of DLG4 (By similarity). CASK and LIN7 form two mutually exclusive tripartite complexes with APBA1 or CASKIN1 (By similarity). Interacts with FCHSD2. Interacts with TSPYL2. Part of a complex containing CASK, TRB1 and TSPYL2 (By similarity). Identified in a complex with ACTN4, IQGAP1, MAGI2, NPHS1, SPTAN1 and SPTBN1 (By similarity). Interacts with KIRREL3.
Subcellular Location:
Nucleus. Cytoplasm. Cell membrane.
Tissue Specificity:
Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver.
DISEASE:
Defects in CASK are the cause of mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Patients with mental retardation X-linked CASK-related can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia (MICPCH Syndrome). A milder phenotype consists of mental retardation alone or associated with nystagmus.
Defects in CASK are the cause of FG syndrome type 4 (FGS4) [MIM:300422]. FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.
Similarity:
Belongs to the MAGUK family.
Contains 1 guanylate kinase-like domain.
Contains 2 L27 domains.
Contains 1 PDZ (DHR) domain.
Contains 1 protein kinase domain.
Contains 1 SH3 domain.
Database links:
Entrez Gene: 8573 Human
Entrez Gene: 12361 Mouse
Entrez Gene: 29647 Rat
Omim: 300172 Human
SwissProt: O14936 Human
SwissProt: O70589 Mouse
SwissProt: Q62915 Rat
Unigene: 495984 Human
Unigene: 327591 Mouse
Unigene: 474948 Mouse
Unigene: 72627 Rat
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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