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

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Code CSB-EP857006HU
MSDS
Size US$306
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 90% as determined by SDS-PAGE.
Target Names
SYNGAP1
Uniprot No.
Research Area
Neuroscience
Alternative Names
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
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
1161-1343aa
Target Protein Sequence
MPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEEEIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIKSIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
25.5 kDa
Protein Length
Partial
Tag Info
N-terminal 6xHis-tagged
Form
Liquid or 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.
Buffer
Tris-based buffer,50% glycerol
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
3-7 business days
Notes
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.

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Target Background

Function
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.
Gene References into Functions
  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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Involvement in disease
Mental retardation, autosomal dominant 5 (MRD5)
Database Links

HGNC: 11497

OMIM: 603384

KEGG: hsa:8831

STRING: 9606.ENSP00000403636

UniGene: Hs.586264

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