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  4. Recombinant Human Rab3 GTPase-activating protein catalytic subunit (RAB3GAP1), partial

Recombinant Human Rab3 GTPase-activating protein catalytic subunit (RAB3GAP1), partial

  • 中文名稱：
    人RAB3GAP1重組蛋白
  • 貨號：
    CSB-YP621861HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人RAB3GAP1重組蛋白
  • 貨號：
    CSB-EP621861HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人RAB3GAP1重組蛋白
  • 貨號：
    CSB-EP621861HU-B
  • 規格：
  • 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RAB3GAP1重組蛋白
  • 貨號：
    CSB-BP621861HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人RAB3GAP1重組蛋白
  • 貨號：
    CSB-MP621861HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    RAB3GAP1
  • Uniprot No.：
  • 別名：
    DKFZp434A012; KIAA0066; P130; Rab3 GAP; Rab3 GAP p130; RAB3 GTPase activating protein 130 kDa subunit; Rab3 GTPase activating protein catalytic subunit; RAB3 GTPase activating protein subunit 1 (catalytic); RAB3 GTPase-activating protein 130 kDa subunit; Rab3 GTPase-activating protein catalytic subunit; Rab3-GAP; Rab3-GAP p130; RAB3GAP; rab3gap1; RAB3GAP130; RB3GP_HUMAN; WARBM1
  • 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：
    Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.
  • 基因功能參考文獻：
    1. Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). PMID: 27256633
    2. show that FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25 PMID: 28575017
    3. RAB18 modulates macroautophagy and proteostasis, and is dependent on activity of RAB3GAP1 and RAB3GAP2. PMID: 28342870
    4. Homozygosity mapping using single nucleotide polymorphism (SNP) microarray data to identify the causative gene in a case with Warburg Micro syndrome (WARBM). PMID: 26138576
    5. sequencing of RAB3GAP1 revealed novel compound heterozygous mutations in the siblings: a paternally inherited missense mutation (c.560G>C; p.Arg187Pro) in exon 7 and a maternally derived nonsense mutation (c.1009C>T; p.Arg337Ter) in exon 12. PMID: 26421802
    6. Warburg Micro syndrome is caused by RAB3GAP deficiency. PMID: 26063829
    7. RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy PMID: 25495476
    8. results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 GTPase activating protein (Rab3GAP1) is implicated in the regulation of nuclear envelope formation through ER-Golgi intermediate compartment PMID: 25612670
    9. A large intragenic homozygous RAB3GAP1 microdeletion is associated with Warburg micro syndrome 1. PMID: 25332050
    10. The stage catalyzed by Rab3 is in a unidirectional, hierarchical connection in which the intra-acrosomal calcium mobilization arm was subordinated to the fusion protein arm; somewhere after Rab3, the pathways became independent. PMID: 25159528
    11. Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure PMID: 24891604
    12. One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases PMID: 23420520
    13. This replication and meta-analysis study showed that genetic variation upstream of the RAB3GAP1 gene is highly likely to be a contributor to the genetic risk of keratoconus development. PMID: 23833071
    14. Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2.[Review] PMID: 23176487
    15. The RAB3GAP gene encodes a protein which is a key regulator of the Rab3 pathway implicated in exocytic release of ocular and neurodevleopmental trophic factors. PMID: 22876574
    16. Mutation in RAB3GAP1 is associated with warburg micro syndrome. PMID: 22768674
    17. study found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds PMID: 20512159
    18. RAB3GAP1 has been shown to cause Micro syndrome. PMID: 18286824

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  • 相關疾病：
    Warburg micro syndrome 1 (WARBM1)
  • 亞細胞定位：
    Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.
  • 蛋白家族：
    Rab3-GAP catalytic subunit family
  • 組織特異性：
    Ubiquitous.
  • 數據庫鏈接：

    HGNC: 17063

    OMIM: 600118

    KEGG: hsa:22930

    STRING: 9606.ENSP00000411418

    UniGene: Hs.306327



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