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CASK Kinase  蛋白

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表达宿主: Baculovirus-Insect Cells  
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11913-H20B-20
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11913-HNCB-20
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CASK Kinase 相关信号通路

    CASK Kinase 概述&蛋白信息

    CASK Kinase 研究背景

    基因概述: 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
    General information above from NCBI
    催化活性: ATP + a protein = ADP + a phosphoprotein.
    辅因子: Unlike other protein kinases, does not require a divalent cation such as magnesium for catalytic activity.
    酶调控: Differs from archetypal CaMK members in that the kinase domain exhibits a constitutively active conformation and the autoinhibitory region does not engage in direct contact with the ATP-binding cleft, although it still binds Ca(2+)/CAM.
    亚单位结构: 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.
    结构域: The first L27 domain binds DLG1 and the second L27 domain probably binds LIN7 (By similarity).
    The protein kinase domain mediates the interaction with FCHSD2.
    亚细胞定位: Nucleus (By similarity). Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein (By similarity).
    组织特异性: Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver.
    相关疾病 : Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus. Note=The disease is caused by mutations affecting the gene represented in this entry.
    FG syndrome 4 (FGS4) [MIM:300422]: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. Note=The disease is caused by mutations affecting the gene represented in this entry.
    相似的序列: In the N-terminal section; belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
    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.C
    General information above from UniProt

    Peripheral plasma membrane protein CASK, also known as calcium/calmodulin-dependent serine protein kinase, CASK and LIN2, is a nucleus, cytoplasm and cell membrane protein which belongs to the MAGUK family. CASK / LIN2 contains one guanylate kinase-like domain, two L27 domains, one PDZ (DHR) domain, one protein kinase domain and one SH3 domain. CASK / LIN2 is ubiquitously expressed. Expression of CASK / LIN2 is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver. CASK / LIN2 is a multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. CASK / LIN2 contributes to neural development and regulation of gene expression via interaction with the transcription factor TRB1. It binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. CASK / LIN2 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. Defects in CASK are the cause of mental retardation X-linked CASK-related (MRXCASK). Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Defects in CASK are also the cause of FG syndrome type 4 which is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.

    CASK Kinase 别称

    CMG,FGS4,LIN2,TNRC8,CAGH39,CAMGUK,MICPCH,MRXSNA, [homo-sapiens]
    CAGH39,CAMGUK,CASK,CMG,FGS4,FLJ22219,FLJ31914,LIN2,MICPCH,RP11-540L11.1,TNRC8, [human]
    Cask,DXPri1,DXRib1,LIN-2,MGC7449,mLin-2,Pals3,RP23-278L4.1, [mouse]
    LIN-2,Pals3,DXPri1,DXRib1,mLin-2, [mus-musculus]

    CASK Kinase 相关文献

  • Cohen A.R., et al., 1998, J. Cell Biol. 142:129-138.
  • Bhalla K., et al., 2008, Am. J. Hum. Genet. 83:703-713.
  • Mukherjee K., et al., 2008, Cell 133: 328-339.
  • Najm J., et al., 2008, Nat. Genet. 40:1065-1067.
  • Piluso G., et al., 2009, Am. J. Hum. Genet. 84:162-177.
  • Tarpey P.S., et al., 2009, Nat. Genet. 41:535-543.
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