Recombinant Human Potassium voltage-gated channel subfamily A member 1 protein(KCNA1),partial

Code CSB-EP012005HU
Size US$1726
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity Greater than 90% as determined by SDS-PAGE.
Target Names KCNA1
Uniprot No. Q09470
Research Area Neuroscience
Alternative Names AEMK; EA1; Episodic ataxia with myokymia; HBK1; HUK1; Kca1 1; Kcna1; KCNA1_HUMAN; Kcpvd; KV1.1; MBK1; mceph; MGC124402; MGC126782; MGC138385; MK1; MK1, mouse, homolog of KV1.1; Potassium channel protein 1; Potassium voltage gated channel shaker related subfamily member 1; Potassium voltage gated channel subfamily A member 1; Potassium voltage gated channel, shaker related subfamily, member 1 (episodic ataxia with myokymia); Potassium voltage-gated channel subfamily A member 1; RBK1 ; RCK1; Shak; Shaker related subfamily member 1; Voltage gated potassium channel subunit Kv1.1; Voltage-gated K(+) channel HuKI; Voltage-gated potassium channel HBK1; Voltage-gated potassium channel subunit Kv1.1
Species Homo sapiens (Human)
Source E.coli
Expression Region 1-154aa
Target Protein Sequence MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPNTLLGNPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVW
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 22.2kDa
Protein Length Partial
Tag Info N-terminal 6xHis-tagged
Form 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.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution 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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life 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.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes 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.

Target Data

Function Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney
Gene References into Functions
  1. In this work, we showed that although both Kv1.1 and Kv1.3 channels are expressed in U87 (glioblastoma), MDA-MB-231 (breast cancer) and LS174 (colon adenocarcinoma) cells, these respond differently to KAaH1 or KAaH2, two homologous Kv1 blockers from scorpion venom PMID: 29415410
  2. A novel Kv1.1 mutation E283K is associated with a broader EA1 phenotype. Mutant channels show slower activation and positively shifted voltage dependence. PMID: 28666963
  3. Study reports a novel KCNA1 mutation associated with an episodic ataxia type 1 phenotype and a possible association with malignant hyperthermia (MH). The current report broadens the phenotypes associated with KCNA1 mutations to include possible susceptibility to MH. PMID: 27271339
  4. Mutation p.Arg324Thr in the KCNA1 gene is pathogenic and results in episodic ataxia type 1 through a dominant-negative effect. PMID: 27477325
  5. Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1, KCNA2, and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1, KCNA2, and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons. PMID: 28658141
  6. we demonstrate that the pathophysiological impact of the I262T mutation entails altered channel gating and defective protein biosynthesis, both of which raise imperative questions that call for further elucidation of the structural and functional roles of the S3 transmembrane segment in Kv1.1 channels. PMID: 26778656
  7. Herein, we critically evaluate the molecular and biophysical characteristics of the KV1.1 protein in comparison with others and discuss their role in the greater penetrance of KCNA1 mutations in humans leading to the neurological signs of episodic ataxia type 1 PMID: 26825872
  8. KCNA1 mutations should be considered in patients of all ages with episodic neurological phenotypes, even when ataxia is not present. PMID: 26395884
  9. These findings provide evidence of an intrinsic cardiac role of Kv1.1 channels and indicate that they may contribute to atrial repolarization and atrial fibrillation susceptibility. PMID: 26162324
  10. Fine-tuning of Kv1.1 surface expression by RNA editing might contribute to the complexity of neuronal Kv channel regulation. PMID: 25100718
  11. Novel mutations in KCNA1 genes are associated with episodic ataxia type 1. PMID: 24275721
  12. Using mutagenesis and analysis of gating currents from gating pore mutations in the Shaker Kv channel, we identified statistically highly significant correlations between VSD function and physicochemical properties of gating pore residues. PMID: 24782544
  13. The combination of copy number variant and SNPs in KCNA1 (and SCN1A) genes increased the risk for both epilepsy and premature death. PMID: 24372310
  14. New mutations (R167M, C185W and I407M) were identified in three out of the four families. When expressed in human embryonic kidney cells, all three new mutations resulted in a loss of K(v)1.1 channel function. PMID: 23349320
  15. characterization of mutations in the potassium channel Kv1.1 PMID: 22609616
  16. NRG1 increased the intrinsic excitability of FS-PV interneurons which was mediated by increasing the near-threshold responsiveness and decreasing the voltage threshold for action potentials through Kv1.1 PMID: 22158511
  17. This study suggested that kcna1 missense mutation have been related to Episodic ataxias 1. PMID: 21827920
  18. Editing of K(V)1.1 channel mRNAs disrupts binding of the N-terminus tip at the intracellular cavity. PMID: 21847110
  19. Data suggest that episodic ataxia type 1 mutations affect fast inactivation of Kv1.1/1.4 channels by a reduction in either subunit surface expression or altered affinity for the inactivation domain. PMID: 21307345
  20. Kv1.1 channels are expressed in the beta-cells of several species PMID: 21483673
  21. integrative genomics approach to a large cohort of medulloblastomas has identified four disparate subgroups (KCNA1)with distinct demographics, clinical presentation, transcriptional profiles, genetic abnormalities, and clinical outcome. PMID: 20823417
  22. Studies of nerve excitability can identify K(v)1.1 dysfunction in patients with episodic ataxia type 1 PMID: 21106501
  23. The occurrence of epilepsy in 1 of 2 families with the F414S mutation suggests an interplay of KCNA1 with other genetic factors PMID: 20660867
  24. An asparagine at position 255 in Kv1.1 is required for normal voltage dependence and kinetics of channel gating. PMID: 19903818
  25. Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1 PMID: 11773313
  26. missense mutation involved in episodic ataxia type 1 PMID: 11960817
  27. I177N, mutation in S1 segment, alters the expression and gating properties of channel expressed in Xenopus oocytes. PMID: 12799903
  28. Results describe an erbstatin (Erb) analogue as a small molecule inhibitor of the N-type inactivation in potassium channels Kv1.4 and Kv1.1+Kvbeta1. PMID: 15136567
  29. This study report an unusual family in which the same point mutation in the voltage-gated potassium channel gene KCNA1 resulted in markedly different clinical phenotypes. PMID: 15351427
  30. coupling between calcium influx and inactivation of voltage-gated A-type K+ channels occurs as a result of membrane depolarization and may contribute to afterhyperpolarization as negative feedback to control neuronal excitability PMID: 15486093
  31. Results identify palmitoylation as a mechanism for K(+) channel interactions with plasma membrane lipids contributing to electric field-induced conformational alterations. PMID: 15837928
  32. Myokymia is an autosomal dominant trait caused by mutations in KCNA1, encoding a voltage-gated potassium channel. PMID: 17136396
  33. This study identified a novel 3-nucleotide deletion mutation in KCNA1 in the episodic ataxia with paroxysmal dyspnea. PMID: 17912752
  34. The spectrum of neurologic manifestations and neoplasms associated with voltage-gated potassium channel (VGKC) autoimmunity is broader than previously recognized PMID: 18474843
  35. A novel missense mutation (F414C) KCNA1 identified in an Italian family affected by episodic ataxia type 1. PMID: 18926884
  36. Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels, KCNA1, to S6 flexibility and gating properties. PMID: 19202350
  37. This study suggested that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay. PMID: 19205071
  38. studied a family with isolated autosomal dominant hypomagnesemia and used a positional cloning approach to identify an N255D mutation in KCNA1 PMID: 19307729

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Involvement in disease Episodic ataxia 1 (EA1); Myokymia isolated 1 (MK1)
Subcellular Location Cell membrane, Multi-pass membrane protein, Membrane, Cell projection, axon, Cytoplasmic vesicle, Perikaryon, Endoplasmic reticulum, Cell projection, dendrite, Cell junction, Cell junction, synapse, Cell junction, synapse, presynaptic cell membrane
Protein Families Potassium channel family, A (Shaker) (TC 1.A.1.2) subfamily, Kv1.1/KCNA1 sub-subfamily
Tissue Specificity Detected adjacent to nodes of Ranvier in juxtaparanodal zones in spinal cord nerve fibers, but also in paranodal regions in some myelinated spinal cord axons (at protein level) (PubMed:11086297). Detected in the islet of Langerhans (PubMed:21483673).
Database Links

HGNC: 6218

OMIM: 160120

KEGG: hsa:3736

STRING: 9606.ENSP00000371985

UniGene: Hs.416139

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