Size:100ug. Other sizes are also available. For further information, please contact us.
Research Areas:Neuroscience
Uniprot ID:Q96PV0
Gene Names:SYNGAP1
Organism:Homo sapiens (Human)
AA Sequence:MPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEEEIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIKSIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH
Expression Region:1161-1343aa
Sequence Info:Partial
Source:E.coli
Tag Info:N-terminal 6xHis-tagged
MW:25.5 kDa
Alternative Name(s):Neuronal RasGAP (Synaptic Ras GTPase-activating protein 1) (Synaptic Ras-GAP 1) (KIAA1938)
Relevance: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.
Reference:"Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1." Carvill G.L., Heavin S.B., Yendle S.C., McMahon J.M., O'Roak B.J., Cook J., Khan A., Dorschner M.O., Weaver M., Calvert S., Malone S., Wallace G., Stanley T., Bye A.M., Bleasel A., Howell K.B., Kivity S., Mackay M.T. Mefford H.C. Nat. Genet. 45:825-830(2013)
Purity:Greater than 90% as determined by SDS-PAGE.
Form:Liquid or Lyophilized powder
Buffer:If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution: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.
Storage: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?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.
Notes:Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.
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 (By similarity).
Involvement in disease:Mental retardation, autosomal dominant 5 (MRD5)
Subcellular Location:
Protein Families:
Tissue Specificity:
Paythway:Rassignalingpathway
HGNC Database Link:https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:11497
UniGene Database Link:https://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=586264
KEGG Database Link:https://www.genome.jp/dbget-bin/www_bget?hsa:8831
STRING Database Link:https://string-db.org/network/9606.ENSP00000403636
OMIM Database Link:https://www.omim.org/entry/603384603384603384
Lead Time Guidance:3-7 business days