SYNGAP1 synaptic Ras GTPase activating protein 1 [Homo sapiens (human)]
| Gene Symbol | SYNGAP1 |
| Entrez Gene ID | 8831 |
| Full Name | synaptic Ras GTPase activating protein 1 |
| Synonyms | DKFZp761G1421, KIAA1938, MRD5, RASA1, RASA5, SYNGAP |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
6 6p21.3 |
| Summary | The protein encoded by this gene is a major component of the postsynaptic density (PSD), a group of proteins found associated with NMDA receptors at synapses. The encoded protein is phosphorylated by calmodulin-dependent protein kinase II and dephosphorylated by NMDA receptor activation. Defects in this gene are a cause of mental retardation autosomal dominant type 5 (MRD5). [provided by RefSeq]. |
| Disorder | MIM: 603384 Mental retardation, autosomal dominant 5, 612621 (3) |
| mRNA | NM_006772, 194248067 |
| Protein | NP_006763, 194248068 |
| Product | ras GTPase-activating protein SynGAP |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | SYNGAP1 | NP_006763.2 |
| Bos taurus (cattle) | SYNGAP1 | XP_001256820.1 |
| Mus musculus (house mouse) | Syngap1 | XP_990642.2 |
| Rattus norvegicus (Norway rat) | Syngap1 | NP_851606.1 |
| Danio rerio (zebrafish) | LOC100151149 | XP_001919204.2 |
| Danio rerio (zebrafish) | LOC562404 | XP_690883.3 |
| ID | Name | Evidence |
| GO:0007165 | signal transduction | IEA |
| GO:0032320 | positive regulation of Ras GTPase activity | ISS |
| GO:0046580 | negative regulation of Ras protein signal transduction | ISS |
| GO:0051056 | regulation of small GTPase mediated signal transduction | IEA |
Component
| ID | Name | Evidence |
| GO:0005622 | intracellular | IEA |
| GO:0005737 | cytoplasm | ISS |
| GO:0031235 | intrinsic to internal side of plasma membrane | ISS |
Function
| ID | Name | Evidence |
| GO:0005099 | Ras GTPase activator activity | ISS |
| GO:0017124 | SH3 domain binding | IEA |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |