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  4. Recombinant Human KAT8 regulatory NSL complex subunit 1 (KANSL1), partial

Recombinant Human KAT8 regulatory NSL complex subunit 1 (KANSL1), partial

  • 中文名稱：
    人KANSL1重組蛋白
  • 貨號：
    CSB-YP770344HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人KANSL1重組蛋白
  • 貨號：
    CSB-EP770344HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人KANSL1重組蛋白
  • 貨號：
    CSB-EP770344HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    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：
  • 中文名稱：
    人KANSL1重組蛋白
  • 貨號：
    CSB-BP770344HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人KANSL1重組蛋白
  • 貨號：
    CSB-MP770344HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    KANSL1
  • Uniprot No.：
  • 別名：
    CENP-36; centromere protein 36; DKFZp686P06109; DKFZp727C091; hMSL1v1; hypothetical protein LOC284058; K1267_HUMAN; KANSL1; KAT8 regulatory NSL complex subunit 1; KDVS; KIAA1267; male-specific lethal 1 homolog; MGC102843; MLL1/MLL complex subunit KIAA1267; MSL1 homolog 1; MSL1v1; Non specific lethal 1 homolog; NSL complex protein NSL1; NSL1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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.
  • 產品提供形式：
    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.
  • 復溶：
    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.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    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.
  • 貨期：
    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.
  • 注意事項：
    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.

產品評價

靶點詳情

  • 功能：
    As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.
  • 基因功能參考文獻：
    1. These results show that a KANSL1 microduplication, in combination with the 22q11.2 deletion, is associated with increased risk of CHD in these patients, suggesting that KANSL1 plays a role as a modifier gene in 22q11.2DS patients. PMID: 28496102
    2. One variant, p.Lys104Thr, was predicted damaging and appeared overrepresented in our 90-patient cohort compared to Genome Aggregation Database allele frequency (0.217 to 0.116). However, there was no difference in p.Lys104Thr allele frequency in the follow-up childhood epilepsy with centrotemporal spikes (CECTS) and atypical childhood epilepsy with centrotemporal spikes (ACECTS) cohort and controls. PMID: 29352316
    3. This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. PMID: 28211987
    4. In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations. PMID: 26424144
    5. essential for mitotic spindle assembly and chromosome segregation PMID: 26243146
    6. KANSL1 gene haploinsufficiency is necessary and sufficient to cause the full spectrum of the 17q21.31 microdeletion syndrome. PMID: 26293599
    7. findings show that de novo loss-of-function mutations in KANSL1 cause a full del(17q21.31) phenotype in 2 unrelated individuals that lack deletion at 17q21.31; findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1 PMID: 22544367
    8. Observational study of gene-disease association. (HuGE Navigator) PMID: 18509094

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  • 亞細胞定位：
    Nucleus. Nucleus. Chromosome, centromere, kinetochore.
  • 組織特異性：
    Expressed in the brain.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 24565

    OMIM: 612452

    KEGG: hsa:284058

    STRING: 9606.ENSP00000262419

    UniGene: Hs.648744



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