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  4. Recombinant Human Battenin (CLN3), partial

Recombinant Human Battenin (CLN3), partial

  • 货号：
    CSB-YP621659HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP621659HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP621659HU-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：
  • 货号：
    CSB-BP621659HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP621659HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CLN3
  • Uniprot No.：
  • 别名：
    Batten disease protein; Battenin; BTS; Ceroid lipofuscinosis neuronal 3; Ceroid lipofuscinosis neuronal 3 juvenile (Batten Spielmeyer Vogt disease); Ceroid lipofuscinosis neuronal 3 juvenile; CLN 3; CLN3; CLN3_HUMAN; JNCL; MGC102840; Protein CLN3
  • 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

靶点详情

  • 功能：
    Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as regulation of lysosomal pH, lysosome protein degradation, receptor-mediated endocytosis, autophagy, transport of proteins and lipids from the TGN, apoptosis and synaptic transmission. Facilitates the proteins transport from trans-Golgi network (TGN)-to other membrane compartments such as transport of microdomain-associated proteins to the plasma membrane, IGF2R transport to the lysosome where it regulates the CTSD release leading to regulation of CTSD maturation and thereby APP intracellular processing. Moreover regulates CTSD activity in response to osmotic stress. Also binds galactosylceramide and transports it from the trans Golgi to the rafts, which may have immediate and downstream effects on cell survival by modulating ceramide synthesis. At the plasma membrane, regulates actin-dependent events including filopodia formation, cell migration, and pinocytosis through ARF1-CDC42 pathway and also the cytoskeleton organization through interaction with MYH10 and fodrin leading to the regulation of the plasma membrane association of Na+, K+ ATPase complex. Regulates synaptic transmission in the amygdala, hippocampus, and cerebellum through regulation of synaptic vesicles density and their proximity to active zones leading to modulation of short-term plasticity and age-dependent anxious behavior, learning and memory. Regulates autophagic vacuoles (AVs) maturation by modulating the trafficking between endocytic and autophagolysosomal/lysosomal compartments, which involves vesicle fusion leading to regulation of degradation process. Participates also in cellular homeostasis of compounds such as, water, ions, amino acids, proteins and lipids in several tissue namely in brain and kidney through regulation of their transport and synthesis.
  • 基因功能参考文献：
    1. the results of this study indicate that Cln3 functions in both conventional and unconventional protein secretion and that loss of Cln3 results in deregulated secretion during early development. Importantly, this is the first evidence in any system linking CLN3 function to protein secretion. PMID: 28365442
    2. AAV2-CLN3 was efficacious in restoring full-length CLN3 transcript and protein in patient-specific fibroblasts and iPSC-derived retinal neurons. When injected into the subretinal space of wild-type mice, purified AAV2-CLN3 did not show any evidence of retinal toxicity PMID: 27400765
    3. The lysosomal enzyme cathepsin D (CTSD) mediates the proteolytic cleavage of PSAP precursor into saposins A-D. Myc-CLN3 colocalized with CTSD and activity of CTSD decreased as myc-CLN3 expression increased, and clearly decreased under hyperosmotic conditions PMID: 28390177
    4. This is the first detailed morphological evaluation of CLN3 patients in the first years after the subjective onset of ocular symptoms. CLN3 is characterized by an early degeneration predominant of the first and second neuron compared to other macular and generalized retinal dystrophies. PMID: 27486012
    5. The age at onset and natural progression of retinal disease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be associated with genotypic differences. PMID: 28542676
    6. CLN3 knockdown inhibits cell proliferation and induces G0/G1 cell cycle arrest in the A2780 cell line and its drug-resistant sub-lines. PMID: 26299671
    7. The membrane topology of human CLN3 protein. PMID: 25051496
    8. The eyes and vision of heterozygous carriers of CLN3 disease showed normal features when compared to a control group, which controverts a previously suggested retinal dysfunction in these subjects. PMID: 25338278
    9. This new model system, which allows for the study of Cln3 function in both single cells and a multicellular organism, together with the observation that expression of human CLN3 restores abnormalities in Dictyostelium cln3- cells PMID: 25330233
    10. These results further support an important role for the CLN3 protein in intracellular Ca(2+) handling and in autophagic pathway flux and establish a powerful new platform for therapeutic screening. PMID: 25878248
    11. CLN3 mutation is associated with neuronal ceroid lipofuscinosis. PMID: 24271013
    12. Genetic testing for CLN3 should be considered in autophagic vacuolar myopathy (AVM), with autophagic vacuoles and sarcolemmal features. PMID: 24827497
    13. CLN3 was identified as a novel disease gene for non-syndromic retinal diseases as supported by five unrelated patient families in this study. PMID: 24154662
    14. CLN3 is involved in the response and adaptation to cellular stress. PMID: 23840424
    15. Protein interaction mapping analysis suggests CLN3 is involved in transmembrane transport, lipid homeostasis, neuronal excitability and link it to G-protein signaling and protein folding/sorting in the endoplasmic reticulum. PMID: 23464991
    16. The data presented in this study provide novel insights into the role of CLN3 in late endosomal/lysosomal membrane transport. PMID: 22261744
    17. Btn1 controls retrograde sorting by regulating SNARE phosphorylation and assembly, a process that may be adversely affected in Batten Disease patients. PMID: 21987636
    18. The predominant distribution of CLN3 reporter neurons in visual, limbic and subcortical motor structures of transgenic mice correlates well with the clinical symptoms of juvenile neuronal ceroid lipofuscinosis. PMID: 20875858
    19. CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival. PMID: 21359198
    20. Data suggest that dysfunction of CLN3P may be causative to dysruption of calcium mediated pathways. PMID: 20933060
    21. Previous reports of genotype and clinical juvenile neuronal ceroid lipofuscinosis phenotype differences were unsupported in this investigation, which did not find differences between individuals homozygous or heterozygous for the CLN3 deletion. PMID: 20187884
    22. cln3 is present during critical periods of neuronal cell differentiation and brain development PMID: 10509355
    23. Identification of a transactivation motif in the CLN3 protein PMID: 11699874
    24. juvenile and variant late infantile neuronal ceroid lipofuscinoses have mutated CLN genes encoding lysosomal proteins (review) PMID: 12125809
    25. Deletion of glycosylation sites and also mutations within conserved amino acid stretches result in slowed cell growth and apoptosis PMID: 12189165
    26. This protein is responsible for Batten Disease. PMID: 12440525
    27. Defective transport at the lysosomal membrane caused by an absence of functional CLN3 is the primary biochemical defect that results in Batten disease. PMID: 14660799
    28. The presence of CLN3 in endosomes of neurons is functionally important. Endosomal association of the protein was independent of the two lysosomal targeting motifs PMID: 14699076
    29. The major mutation is a 1.02 kb deletion, which removes exons 7 and 8. Both homozygotic and heterozygotic deletions at the CLN3 gene site have been associated with the clinical syndromes of juvenile neuronal ceroid-lipofuscinosis. PMID: 15032383
    30. These studies identify a novel CLN3 domain that may dictate localization and function of CLN3. PMID: 15240864
    31. the second cytoplasmic domain of CLN3 protein has a dileucine motif and a cluster of acidic amino acids which are required for efficient lysosomal targeting PMID: 15469932
    32. suggests a link between CLN3 function, microtubule cytoskeleton and endocytic membrane trafficking PMID: 15471887
    33. AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif PMID: 15598649
    34. Batten disease, an inherited neurodegenerative storage disease affecting children, results from the autosomal recessive inheritance of mutations in Cln3. And is resident in the lysosomal/endosomal membrane. PMID: 15657902
    35. We report the discovery of a novel mutation identified as a G to T transversion at nucleotide 49 (G49T) in exon 2 of CLN3, introducing a premature stop codon (E17X) near the N-terminus. This mutation represents the most 5' mutation described to date. PMID: 16087292
    36. CLN3 defect in juvenile Batten disease may affect how intracellular levels of arginine are regulated or distributed throughout the cell. PMID: 16251196
    37. The CLN3 protein trafficked to the vacuole membrane via early endocytic and pre-vacuolar compartments. PMID: 16291725
    38. CLN3P significantly increased the survival rate of the SH-SY5Y neurblastoma cells further evidence that CLN3P has anti-apoptotic properties PMID: 16515873
    39. Autophagy is disrupted in juvenile neuronal ceroid lipofuscinosis, likely at the level of autophagic vacuolar maturation in CLN3 knockin mice. PMID: 16714284
    40. Co-operative signal structures in different cytoplasmic domains of CLN3 are required for efficient sorting and for transport to the lysosome. PMID: 17286803
    41. There is a strong correlation between CLN3 protein expression and synthesis of bis(monoacylglycerol)phosphate. PMID: 17482562
    42. Review provides a brief overview and an update of recent research in juvenile neuronal ceroid-lipofuscinosis, specifically that related to the function of CLN3 protein, whose primary function may be that of the enzyme palmitoyl-protein delta-9 desaturase. PMID: 17896996
    43. Study concluded that the common mutant CLN3 protein does indeed retain significant function and that juvenile neuronal ceroid lipofuscinoses is a mutation-specific disease phenotype. PMID: 17947292
    44. Homozygous Cln3(delta ex7/8) transgenic mice represent the most appropriate disease model for studying the development of the pathogenetic events of juvenile neuronal ceroidlipofuscinoses. PMID: 18265413
    45. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. PMID: 18317235
    46. a substantial decrease in the transcript level of the truncated CLN3 gene product in cells from 1 kb deletion patients PMID: 18678598
    47. CLN3 is essential for trafficking along the route needed for delivery of lysosomal enzymes, and its loss thereby contributes to and may explain the lysosomal dysfunction underlying Batten disease PMID: 18817525
    48. CLN3 interacts with Notch and Jun N-terminal kinase signalling pathways. PMID: 19028667
    49. S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p. PMID: 19299465
    50. A new c.597C>A transversion in exon 8 of CLN3 gene, homozygous in all affected family members and not present in 200 alleles of normal controls, is reported. PMID: 19489875

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  • 相关疾病：
    Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • 亚细胞定位：
    Lysosome membrane; Multi-pass membrane protein. Late endosome. Lysosome. Golgi apparatus. Golgi apparatus membrane. Golgi apparatus, Golgi stack. Golgi apparatus, trans-Golgi network. Cell membrane. Recycling endosome. Membrane raft. Membrane, caveola. Early endosome membrane. Cell junction, synapse, synaptosome. Late endosome membrane. Cytoplasmic vesicle, autophagosome.
  • 蛋白家族：
    Battenin family
  • 组织特异性：
    Expressed in the cortical brain, pancreas, spleen, and testis with weaker expression in the peripheral nerve (at protein level). Highly expressed in gray matter (at protein level).
  • 数据库链接：

    HGNC: 2074

    OMIM: 204200

    KEGG: hsa:1201

    STRING: 9606.ENSP00000353073

    UniGene: Hs.534667