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RAB3GAP1 Antibody

  • 货号：
    CSB-PA019198GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q15042
  • 基因名：
    RAB3GAP1
  • 别名：
    DKFZp434A012 antibody; KIAA0066 antibody; P130 antibody; Rab3 GAP antibody; Rab3 GAP p130 antibody; RAB3 GTPase activating protein 130 kDa subunit antibody; Rab3 GTPase activating protein catalytic subunit antibody; RAB3 GTPase activating protein subunit 1 (catalytic) antibody; RAB3 GTPase-activating protein 130 kDa subunit antibody; Rab3 GTPase-activating protein catalytic subunit antibody; Rab3-GAP antibody; Rab3-GAP p130 antibody; RAB3GAP antibody; rab3gap1 antibody; RAB3GAP130 antibody; RB3GP_HUMAN antibody; WARBM1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human RAB3GAP1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IF
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Warburg micro syndrome 1 (WARBM1)
  • 亚细胞定位：
    Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.
  • 蛋白家族：
    Rab3-GAP catalytic subunit family
  • 组织特异性：
    Ubiquitous.
  • 数据库链接：

    HGNC: 17063

    OMIM: 600118

    KEGG: hsa:22930

    STRING: 9606.ENSP00000411418

    UniGene: Hs.306327