RAB3GAP1 Antibody

說明書

中文名稱：

RAB3GAP1兔多克隆抗體
貨號：

CSB-PA019198GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q15042
基因名：

RAB3GAP1
別名：

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
反應種屬：

Human,Mouse,Rat
免疫原：

Human RAB3GAP1
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunofluorescence (IF) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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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