Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.
| RefSeq Version | NM_006772.2, 194248067 |
| Length | 6011 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. |
| Product | ras GTPase-activating protein SynGAP |
| Comment | 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]. |
| RefSeq | NP_006763.2 |
| CDS | 196..4227 | Exon (1) | 1..262 | Exon (2) | 1..262 | Exon (3) | 263..384 | Exon (4) | 385..490 | Exon (5) | 491..582 | Exon (6) | 583..704 | Exon (7) | 705..858 | Exon (8) | 859..957 | Exon (9) | 958..1581 | Exon (10) | 1582..1726 | Exon (11) | 1727..1871 | Exon (12) | 1872..2108 | Exon (13) | 2109..2310 | Exon (14) | 2311..2489 | Exon (15) | 2490..2531 | Exon (16) | 2532..3603 | Exon (17) | 3604..3777 | Exon (18) | 3778..3989 | Exon (19) | 3990..4080 | Exon (20) | 4081..6010 |
| Translation | MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLD
EDEIHPLLIRDRRSESSRNKLLRRTVSVPVEGRPHGEHEYHLGRSRRKSVPGGKQYSMEG
APAAPFRPSQGFLSRRLKSSIKRTKSQPKLDRTSSFRQILPRFRSADHDRARLMQSFKES
HSHESLLSPSSAAEALELNLDEDSIIKPVHSSILGQEFCFEVTTSSGTKCFACRSAAERD
KWIENLQRAVKPNKDNSRRVDNVLKLWIIEARELPPKKRYYCELCLDDMLYARTTSKPRS
ASGDTVFWGEHFEFNNLPAVRALRLHLYRDSDKKRKKDKAGYVGLVTVPVATLAGRHFTE
QWYPVTLPTGSGGSGGMGSGGGGGSGGGSGGKGKGGCPAVRLKARYQTMSILPMELYKEF
AEYVTNHYRMLCAVLEPALNVKGKEEVASALVHILQSTGKAKDFLSDMAMSEVDRFMERE
HLIFRENTLATKAIEEYMRLIGQKYLKDAIGEFIRALYESEENCEVDPIKCTASSLAEHQ
ANLRMCCELALCKVVNSHCVFPRELKEVFASWRLRCAERGREDIADRLISASLFLRFLCP
AIMSPSLFGLMQEYPDEQTSRTLTLIAKVIQNLANFSKFTSKEDFLGFMNEFLELEWGSM
QQFLYEISNLDTLTNSSSFEGYIDLGRELSTLHALLWEVLPQLSKEALLKLGPLPRLLND
ISTALRNPNIQRQPSRQSERPRPQPVVLRGPSAEMQGYMMRDLNSSIDLQSFMARGLNSS
MDMARLPSPTKEKPPPPPPGGGKDLFYVSRPPLARSSPAYCTSSSDITEPEQKMLSVNKS
VSMLDLQGDGPGGRLNSSSVSNLAAVGDLLHSSQASLTAALGLRPAPAGRLSQGSGSSIT
AAGMRLSQMGVTTDGVPAQQLRIPLSFQNPLFHMAADGPGPPGGHGGGGGHGPPSSHHHH
HHHHHHRGGEPPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFGPSGTDFTRR
QLSLQDNLQHMLSPPQITIGPQRPAPSGPGGGSGGGSGGGGGGQPPPLQRGKSQQLTVSA
AQKPRPSSGNLLQSPEPSYGPARPRQQSLSKEGSIGGSGGSGGGGGGGLKPSITKQHSQT
PSTLNPTMPASERTVAWVSNMPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEE
EIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIK
SIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAP
PAPPPPPRLQITENGEFRNTADH
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| Position | Chain | Variation | Link |
| 123 | + | c, t | dbSNP:399463 |
| 128 | + | , c | dbSNP:35165086 |
| 168 | + | c, g | dbSNP:432615 |
| 393 | + | c, t | dbSNP:73402305 |
| 606 | + | , a | dbSNP:34885339 |
| 607 | + | a, t | dbSNP:121918315 |
| 1686 | + | c, t | dbSNP:72887798 |
| 1731 | + | a, g | dbSNP:7759963 |
| complement(1908) | - | t, c | dbSNP:411136 |
| 1930 | + | c, t | dbSNP:121918316 |
| 1998 | + | a, g | dbSNP:77934848 |
| 2046 | + | a, g | dbSNP:75579703 |
| 2211 | + | a, g | dbSNP:57365292 |
| 2549 | + | c, g | dbSNP:117319033 |
| 3165 | + | c, t | dbSNP:61421477 |
| 3337 | + | g, t | dbSNP:11756959 |
| 3519 | + | , c | dbSNP:35337985 |
| 3695 | + | a, g | dbSNP:112387978 |
| 3829 | + | c, t | dbSNP:112764125 |
| 4415 | + | c, t | dbSNP:75359485 |
| 4481 | + | c, t | dbSNP:56250036 |
| 4831 | + | g, t | dbSNP:13214818 |
| 5186 | + | a, g | dbSNP:113985177 |
| 5308 | + | c, t | dbSNP:115953368 |
| 5553 | + | c, t | dbSNP:116313386 |
| Gene Symbol | SYNGAP1 |
| Gene Synonym | DKFZp761G1421; KIAA1938; MRD5; RASA1; RASA5; SYNGAP |
| Chromosome | 6 |
| Locus Map | 6p21.3 |
| All Transcripts | NM_006772 |
| Title | [De novo mutations in SYNGAP1 associated with non-syndromic mental retardation] . |
| Author | Hamdan,F.F., Gauthier,J., Rouleau,G.A. and Michaud,J.L. |
| Journal | Med Sci (Paris) 26 (2), 133-135 (2010) |
| Title | High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions . |
| Author | Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A., Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A., Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G., Harley,J.B., Gaffney,P.M. and Criswell,L.A. |
| Journal | PLoS Genet. 5 (10), E1000696 (2009) |
| Title | Decreased expression of NMDA receptor-associated proteins in frontal cortex of elderly patients with schizophrenia . |
| Author | Funk,A.J., Rumbaugh,G., Harotunian,V., McCullumsmith,R.E. and Meador-Woodruff,J.H. |
| Journal | Neuroreport 20 (11), 1019-1022 (2009) |
| Title | Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation . |
| Author | Hamdan,F.F., Gauthier,J., Spiegelman,D., Noreau,A., Yang,Y., Pellerin,S., Dobrzeniecka,S., Cote,M., Perreau-Linck,E., Carmant,L., D'Anjou,G., Fombonne,E., Addington,A.M., Rapoport,J.L., Delisi,L.E., Krebs,M.O., Mouaffak,F., Joober,R., Mottron,L., Drapeau,P., Marineau,C., Lafreniere,R.G., Lacaille,J.C., Rouleau,G.A. and Michaud,J.L. |
| Journal | N. Engl. J. Med. 360 (6), 599-605 (2009) |
| Title | The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction . |
| Author | Pena,V., Hothorn,M., Eberth,A., Kaschau,N., Parret,A., Gremer,L., Bonneau,F., Ahmadian,M.R. and Scheffzek,K. |
| Journal | EMBO Rep. 9 (4), 350-355 (2008) |
| Title | Proteomic analysis of NMDA receptor-adhesion protein signaling complexes . |
| Author | Husi,H., Ward,M.A., Choudhary,J.S., Blackstock,W.P. and Grant,S.G. |
| Journal | Nat. Neurosci. 3 (7), 661-669 (2000) |
| Title | A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II . |
| Author | Chen,H.J., Rojas-Soto,M., Oguni,A. and Kennedy,M.B. |
| Journal | Neuron 20 (5), 895-904 (1998) |
| Title | SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family . |
| Author | Kim,J.H., Liao,D., Lau,L.F. and Huganir,R.L. |
| Journal | Neuron 20 (4), 683-691 (1998) |
| Title | The vascular endothelial growth factor receptor KDR activates multiple signal transduction pathways in porcine aortic endothelial cells . |
| Author | Kroll,J. and Waltenberger,J. |
| Journal | J. Biol. Chem. 272 (51), 32521-32527 (1997) |
| Title | Distinct phosphotyrosines on a growth factor receptor bind to specific molecules that mediate different signaling pathways . |
| Author | Fantl,W.J., Escobedo,J.A., Martin,G.A., Turck,C.W., del Rosario,M., McCormick,F. and Williams,L.T. |
| Journal | Cell 69 (3), 413-423 (1992) |
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