Recombinant Human Ras GTPase-activating protein SynGAP (SYNGAP1), partial

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中文名稱：

人SYNGAP1重組蛋白
貨號：

CSB-EP857006HU
說明書：

MSDS Datasheet
規格：

￥1836
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

SYNGAP1
Uniprot No.：

Q96PV0
別名：

DKFZp761G1421 ; KIAA1938; MRD5; Neuronal RasGAP; OTTHUMP00000064825; p135 SynGAP; Ras GTPase activating protein SynGAP; Ras GTPase-activating protein SynGAP; RASA 1; RASA 5; RASA1; RASA5; SYGP1_HUMAN; Synaptic Ras GAP 1; Synaptic Ras GTPase activating protein 1; Synaptic Ras GTPase activating protein 1 homolog; Synaptic Ras GTPase activating protein 135kDa; Synaptic Ras GTPase activating protein; Synaptic Ras GTPase-activating protein 1; Synaptic Ras-GAP 1; SYNGAP 1; SYNGAP1
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

25.5 kDa
表達區域：

1161-1343aa
氨基酸序列

MPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEEEIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIKSIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 6xHis-tagged
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

Tris-based buffer，50% glycerol
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：

3-7 business days
注意事項：

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.

產品評價

靶點詳情

功能：

Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits.
基因功能參考文獻：
1. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. PMID: 26079862
2. This is the first description of a special electroencephalogram phenomenon (normalization with eye opening) in association with SYNGAP1 mutations. PMID: 26110312
3. Syngap transgenic mice exhibited alterations in long-term depression and dendritic spine morphology. PMID: 26558778
4. Phosphorylation of synaptic GTPase-activating protein (synGAP) by Ca2+/calmodulin-dependent protein kinase II (CaMKII) and cyclin-dependent kinase 5 (CDK5) alters the ratio of its GAP activity toward Ras and Rap GTPases. PMID: 25533468
5. Reduced cognition in mutant Syngap1 transgenic mice is caused by isolated damage to developing forebrain neurons. PMID: 24945774
6. De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. PMID: 23708187
7. De novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function, causing intellectual disability, autism, and a specific form of epilepsy. PMID: 23161826
8. SYNGAP1 is a brain-specific protein that interacts with key components of the proteins involved in experience-dependent changes in glutamate synapses involved in learning. PMID: 21480541
9. We provide evidence that truncating mutations in SYNGAP1 are common in nonsyndromic intellectual disability and can be also associated with autism. PMID: 21237447
10. The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction. PMID: 18323856
11. Results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation. PMID: 19196676
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相關疾病：

Mental retardation, autosomal dominant 5 (MRD5)
數據庫鏈接：

HGNC: 11497

OMIM: 603384

KEGG: hsa:8831

STRING: 9606.ENSP00000403636

UniGene: Hs.586264