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  4. Recombinant Human Peripheral plasma membrane protein CASK (CASK), partial

Recombinant Human Peripheral plasma membrane protein CASK (CASK), partial

  • 中文名称：
    Recombinant Human Peripheral plasma membrane protein CASK(CASK) ,partial
  • 货号：
    CSB-YP004539HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    Recombinant Human Peripheral plasma membrane protein CASK(CASK) ,partial
  • 货号：
    CSB-EP004539HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    Recombinant Human Peripheral plasma membrane protein CASK(CASK) ,partial
  • 货号：
    CSB-EP004539HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    Recombinant Human Peripheral plasma membrane protein CASK(CASK) ,partial
  • 货号：
    CSB-BP004539HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    Recombinant Human Peripheral plasma membrane protein CASK(CASK) ,partial
  • 货号：
    CSB-MP004539HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CASK
  • Uniprot No.：
    O14936
  • 别名：
    CAGH39; Caki; Calcium/calmodulin dependent serine protein kinase; Calcium/calmodulin dependent serine protein kinase (MAGUK family); Calcium/calmodulin dependent serine protein kinase membrane associated guanylate kinase; Calcium/calmodulin-dependent serine protein kinase; CAMGUK; CAMGUK protein; CAMGUK; drosophila; homolog of; casK; CMG; CSKP_HUMAN; DXPri1; DXRib1; FGS4; FLJ22219; FLJ31914; hCASK; LIN 2; Lin 2 homolog; LIN2; Lin2 homolog; MICPCH; MRXSNA; Pals3; Peripheral plasma membrane protein CASK; Protein lin-2 homolog; TNRC8; Trinucleotide repeat containing 8; Vertebtate LIN2 homolog
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

相关产品

CASK antibodies

靶点详情

  • 功能：
    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 TBR1. 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. Component of the LIN-10-LIN-2-LIN-7 complex, which associa...显示更多
  • 基因功能参考文献：
    1. Data suggest that children with heterozygous mutation in the gene CASK kinase (CASK) and mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) are responsive to intensive therapy aimed at increasing functional skills/independence. PMID: 29258560
    2. Authors have identified mutations in PAK3, CASK, and MECP2 that likely contribute to intellectual disability, and the findings extend the spectrum of mutations and phenotypes associated with X-linked intellectual disability. PMID: 28481730
    3. The CASK as a novel regulator of Cav1.2 via a modulation of the voltage-gated calcium channel Cav1.2 open probability. PMID: 27720444
    4. findings demonstrate that microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a genetically heterogeneous condition, in which CASK inactivating mutations appear to account for the majority of MICPCH cases and with severer phenotypes, while the non-CASK mutation cases tend to have milder microcephaly PMID: 28783747
    5. we provide a further characterization of genotype-phenotype correlations in CASK mutations and the presentation of nystagmus and the FGS4 phenotype. PMID: 28139025
    6. During atrial dilation/remodeling, CASK expression was reduced but its localization remained unchanged. PMID: 27364017
    7. we report a patient presenting with a complex phenotype consisting of severe, adult-onset, dilated cardiomyopathy, hearing loss and developmental delay, in which exome sequencing revealed two genetic variants that are inherited from a healthy mother: a novel missense variant in the CASK gene, mutations in which cause a spectrum of neurocognitive manifestations PMID: 27173948
    8. In clinical specimens, CASK was over-expressed in tumors and H. pylori positive tissues, and its mRNA levels were inversely correlated with miR-203 expression. PMID: 25373785
    9. Data indicate that patients with low calcium/calmodulin-dependent serine protein kinase (CASK) staining had a significantly better survival compared to patients with high CASK staining. PMID: 24927672
    10. The findings suggest that CASK and the truncated prestin splice isoform contribute to confinement of prestin to the basolateral region of the plasma membrane. PMID: 23542924
    11. CASK regulates CaMKII autophosphorylation in a pathway required for memory formation. PMID: 23543616
    12. a model whereby CASK recruits FRMD7 to the plasma membrane to promote neurite outgrowth during development of the oculomotor neural network and that defects in this interaction result in nystagmus. PMID: 23406872
    13. our findings suggest a molecular mechanism by which CASK binding regulates SAP97 conformation and its subsequent sorting and synaptic targeting of AMPARs and NMDARs during trafficking to synapses. PMID: 23864692
    14. CASK represents an intracellular gateway to regulate purinergic nociceptive signaling. PMID: 23600800
    15. An early diagnosis and be useful for medical care of females with ID and MICPCH associated with CASK mutations. PMID: 23165780
    16. CASK combines the scaffolding activity of MAGUKs with an unusual kinase activity that phosphorylates substrates recuited by the scaffolding activity. PMID: 18423203
    17. case reports - mutations resulting in Ohtahara syndrome and cerebellar hypoplasia PMID: 22709267
    18. During wounding, CASK is mobilized to the plasma membrane where it colocalizes with Cx43 and CADM1 1 hour after skin explant wounding. PMID: 22389404
    19. CASK related PCH is the second most frequent cause of PCH. The identification of a de novo mutation in these patients enables accurate and reassuring genetic counselling PMID: 22452838
    20. Intragenic duplications and mutations of CASK is associated with mental retardation and microcephaly with pontine and cerebellar hypoplasia PMID: 21735175
    21. Heterozygous mutations in the CASK gene are described in 20 female patients that are associated with distinct brain malformations and phenotypes of remarkably varying degrees. PMID: 21954287
    22. The liprin-alpha2/CASK complex structure is solved here. PMID: 21855798
    23. Study shows that a short linear EEIWVLRK peptide motif from Caskin1 is necessary and sufficient for binding CASK. PMID: 21763699
    24. CASK plays a role in axonogenesis, which may be related to brain anatomical characteristics in humans PMID: 20623620
    25. These findings reinforce the CASK gene as a relatively frequent cause of X-linked mental retardation in females and males. PMID: 20029458
    26. syndecan's interactions with both CASK and neurofibromin are dependent on syndecan homodimerization. PMID: 20006588
    27. Post-translational modifications to CASK are major regulatory steps leading to its proteasomal degradation. PMID: 19781660
    28. Upregulation of CASK protein is associated with tumorigenesis of esophagus PMID: 11880184
    29. coordinated folding and association of the LIN-2, -7 domain PMID: 12110687
    30. plasma membrane Ca2+ pump 4b/CI binds to Ca2+/calmodulin-dependent membrane-associated kinase CASK PMID: 12511555
    31. Thus, we speculate that the regulation of cell growth mediated by CASK may be involved in Id1. PMID: 15694377
    32. Genetic deletion of CASK results in haploinsufficiency, which might cause X-linked dominant mental retardation. PMID: 18629876
    33. CASK is targeted to nuclei of the basal epidermis and controls keratinocyte proliferation. PMID: 18664494
    34. hCASK regulation of cell growth might involve p21 expression, and that the bHLH (basic helix-loop-helix) transcription factor E2A probably participates in hCASK regulation of p21 expression PMID: 19125693
    35. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK PMID: 19165920
    36. study reports that a p.R28L (c.83G-->T) missense mutation in CASK causes FG syndrome phenotype in an Italian family PMID: 19200522
    37. The molecular functions of CASK may explain, at least partially in this review, the malformations of the brain and the mental retardation in human patients carrying mutations in the CASK gene. PMID: 19847910

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  • 相关疾病：
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH); FG syndrome 4 (FGS4)
  • 亚细胞定位：
    Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein.
  • 蛋白家族：
    Protein kinase superfamily, CAMK Ser/Thr protein kinase family, CaMK subfamily; MAGUK family
  • 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.
  • 数据库链接：

    HGNC: 1497

    OMIM: 300172

    KEGG: hsa:8573

    STRING: 9606.ENSP00000367408

    UniGene: Hs.495984

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