Your Good Partner in Biology Research

  1. 首页
  2. 蛋白
  3. 跨膜蛋白
  4. Recombinant Human Potassium voltage-gated channel subfamily C member 3 (KCNC3)

Recombinant Human Potassium voltage-gated channel subfamily C member 3 (KCNC3)

  • 货号：
    CSB-CF621758HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    KCNC3
  • Uniprot No.：
  • 别名：
    KCNC3; Potassium voltage-gated channel subfamily C member 3; KSHIIID; Voltage-gated potassium channel subunit Kv3.3
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-757
  • 氨基酸序列
    MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQQQPAQPGPAASPAGPPAPRG PGDRRAEPCPGLPAAAMGRHGGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEP EAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKLHCPADVCGPLFEEELGFWGIDETD VEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLDGAGG ELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFI LISITTFCLETHEGFIHISNKTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFT FEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVR ILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDIL GSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPKKKNKHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPI TPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGLPPLPAPGEPCPLAQEEVIEINRAD PRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPSPDGS IRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics. It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis. Required for normal motor function. Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex.
  • 基因功能参考文献：
    1. Study expanded the genotype-phenotype-pathophysiology repertoire of SCA13 by addition of a causative KCNC3 mutation, p.Pro583_Pro585del, its associated phenotype of profound spasticity, and the decreased inactivation rate of the mutant channel. PMID: 29949095
    2. results therefore confirm the KCNC3R423H allele as causative for SCA13, through a dominant negative effect on KCNC3WT and links with EGFR that account for dominant inheritance, congenital onset, and disease pathology PMID: 28467418
    3. This review covers the localization and physiological function of Kv3.3 in the central nervous system and how the normal function of the channel is altered by the disease-causing mutations PMID: 26442672
    4. Kv3.3 regulates Arp2/3-dependent cortical actin nucleation mediated by Hax-1; resulting cortical actin structures interact with the channel's gating machinery to slow its inactivation rate during sustained membrane depolarizations; a mutation that leads to late-onset spinocerebellar ataxia type 13. PMID: 26997484
    5. The Kv channels, or at least Kv3.3, appear to be associated with cell differentiation PMID: 26849432
    6. Functional and in silico analysis identified at least one novel pathogenic mutation in KCNC3 that cause Spinocerebellar ataxia type 13 (SCA13) and two additionally potential ones. PMID: 25756792
    7. investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2 PMID: 25981959
    8. These results are specific to the KCNC3(R420H) allele and provide new insight into the molecular basis of disease manifestation in SCA13. PMID: 25152487
    9. Data indicate that an autosomal dominant mutation in the gene encoding Kv3.3 has been identified in a large Filipino kindred manifesting as spinocerebellar ataxia type 13 (SCA13). PMID: 24116147
    10. no disease-related KCNC3 mutation was identified, suggesting that spinocerebellar ataxia type 13 is a rare form of SCA in mainland China PMID: 23293936
    11. This study presented the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis. PMID: 23912307
    12. Data suggest that mutant forms of Kv3.3 (as seem in subjects with spinocerebellar ataxia-13) are unstable, are degraded through proteasomes at faster rates, and can be stabilized by a chemical chaperone. PMID: 23734863
    13. Kv3.3 gating contributes significantly to an early age of onset in spinocerebellar ataxia type 13 PMID: 22289912
    14. The KCNC3 mutation casued Spinocerebellar ataxia 13. PMID: 21827913
    15. The spinocerebellar ataxia type 13 mutation of the KV3.3 gene specifically suppresses the excitability of Kv3.3-expressing, fast-spiking neurons in zebrafish PMID: 21543613
    16. Mutations in KCNC3 are a rare cause of spinocerebellar ataxia with a frequency of less than 1%. PMID: 21479265
    17. The p.Arg420His mutation, which results in a nonfunctional channel subunit, was recurrent and associated with late-onset progressive ataxia. PMID: 19953606
    18. results establish a role for KCNC3 in phenotypes ranging from developmental disorders to adult-onset neurodegeneration and suggest voltage-gated K+ channels as candidates for additional neurodegenerative diseases PMID: 16501573
    19. Mutations in the voltage-gated potassium channel KCNC3 are causative for spinocerebellar ataxia 13. PMID: 18592334

    显示更多

    收起更多

  • 相关疾病：
    Spinocerebellar ataxia 13 (SCA13)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cell junction, synapse, presynaptic cell membrane; Multi-pass membrane protein. Perikaryon. Cell projection, axon. Cell projection, dendrite. Cell projection, dendritic spine membrane; Multi-pass membrane protein. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton.
  • 蛋白家族：
    Potassium channel family, C (Shaw) (TC 1.A.1.2) subfamily, Kv3.3/KCNC3 sub-subfamily
  • 数据库链接：

    HGNC: 6235

    OMIM: 176264

    KEGG: hsa:3748

    STRING: 9606.ENSP00000434241

    UniGene: Hs.467146