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Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.


RefSeq Accession Definition Services Price Order
NM_006772 Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. ORF Sequence $1411.20
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_006772.2, 194248067
Length 6011 bp
Structure linear
Update Date 17-APR-2013
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, Dec 2009].

RefSeq NP_006763.2
CDS 196..4227
Misc Feature(1)601..942
Misc Feature(2)601..942
Misc Feature(3)order(601..624,640..660,703..723,829..840,850..864,
Misc Feature(4)949..1437
Misc Feature(5)1438..2361
Misc Feature(6)order(1525..1527,1636..1638,1648..1659,1678..1680,
Misc Feature(7)2350..4122
Misc Feature(8)2548..2640
Exon (1)1..262
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (2)263..384
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (3)385..490
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (4)491..582
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (5)583..704
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (6)705..858
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (7)859..957
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (8)958..1581
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (9)1582..1726
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (10)1727..1871
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (11)1872..2108
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (12)2109..2310
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (13)2311..2489
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (14)2490..2531
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (15)2532..3603
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (16)3604..3777
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (17)3778..3989
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (18)3990..4080
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
Exon (19)4081..6010
Gene:SYNGAP1
Gene Synonym:MRD5; RASA1; RASA5; SYNGAP
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
112+dbSNP:
112+a, tdbSNP:189031463
123+c, tdbSNP:399463
125+c, tdbSNP:192610445
128+, cdbSNP:35165086
168+c, gdbSNP:432615
279+dbSNP:
279+c, tdbSNP:142359891
297+c, tdbSNP:147913000
393+dbSNP:
393+c, tdbSNP:73402305
411+c, gdbSNP:200068811
423+c, tdbSNP:147049139
574+dbSNP:
574+c, tdbSNP:192116921
606+dbSNP:
606+, adbSNP:34885339
607+a, tdbSNP:121918315
696+c, tdbSNP:138286163
709+dbSNP:
709+c, tdbSNP:142649710
781+c, tdbSNP:145694123
907+dbSNP:
907+a, gdbSNP:138903637
1026+dbSNP:
1026+a, gdbSNP:149394351
1235+a, cdbSNP:201787289
1261+c, tdbSNP:144778033
1393+c, gdbSNP:201020155
1404+a, gdbSNP:185407862
1493+c, tdbSNP:200213875
1619+dbSNP:
1619+a, gdbSNP:138609496
1650+c, tdbSNP:201107225
1675+a, gdbSNP:202049695
1686+c, tdbSNP:72887798
1731+dbSNP:
1731+a, gdbSNP:7759963
1770+a, gdbSNP:139050190
1776+c, tdbSNP:202178663
1851+c, tdbSNP:142692732
1908+dbSNP:
1908+c, tdbSNP:411136
1930+c, tdbSNP:121918316
1971+a, gdbSNP:150153477
1998+a, gdbSNP:77934848
2007+a, gdbSNP:149727287
2046+a, gdbSNP:75579703
2079+a, gdbSNP:140022772
2083+a, gdbSNP:192497085
2130+dbSNP:
2130+c, tdbSNP:145406441
2211+a, gdbSNP:57365292
2242+a, gdbSNP:147668681
2313+dbSNP:
2313+a, gdbSNP:149131236
2316+c, tdbSNP:143401233
2402+a, gdbSNP:151334677
2511+dbSNP:
2511+c, tdbSNP:182565988
2529+c, tdbSNP:199759879
2534+dbSNP:
2534+c, gdbSNP:140592564
2549+c, gdbSNP:202023175
2557+c, tdbSNP:201062426
2583+a, cdbSNP:145844559
2589+a, g, tdbSNP:138404495
2607+c, tdbSNP:141645280
2661+a, gdbSNP:145297490
2763+c, tdbSNP:137894267
2853+a, gdbSNP:149467343
2890+a, gdbSNP:143862418
2899+a, gdbSNP:148703943
3040+a, gdbSNP:141341400
3051+c, tdbSNP:147407494
3138+c, tdbSNP:202074092
3165+c, tdbSNP:61421477
3166+a, gdbSNP:145472959
3273+a, cdbSNP:147684240
3329+c, gdbSNP:139759084
3337+g, tdbSNP:11756959
3432+a, cdbSNP:149779350
3468+a, gdbSNP:145707539
3492+c, tdbSNP:149016890
3519+, cdbSNP:35337985
3519+c, tdbSNP:139841529
3539+c, tdbSNP:191549504
3690+dbSNP:
3690+a, gdbSNP:200386206
3695+a, gdbSNP:112387978
3829+dbSNP:
3829+c, tdbSNP:112764125
3978+c, tdbSNP:202136046
4053+dbSNP:
4053+a, tdbSNP:139853969
4097+dbSNP:
4097+c, gdbSNP:199694815
4197+c, tdbSNP:201509029
4368+c, tdbSNP:186837972
4415+c, tdbSNP:138935161
4439+a, gdbSNP:149438267
4481+c, tdbSNP:56250036
4831+g, tdbSNP:13214818
5186+a, gdbSNP:113985177
5308+c, tdbSNP:115953368
5446+c, gdbSNP:146399784
5533+c, gdbSNP:139658874
5553+c, tdbSNP:116313386
Gene SymbolSYNGAP1
Gene SynonymMRD5; RASA1; RASA5; SYNGAP
Chromosome6
Locus Map6p21.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_006772 Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. Full Length $2704.95
ORF Sequence $1411.20
Title De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism .
Author Hamdan,F.F., Daoud,H., Piton,A., Gauthier,J., Dobrzeniecka,S., Krebs,M.O., Joober,R., Lacaille,J.C., Nadeau,A., Milunsky,J.M., Wang,Z., Carmant,L., Mottron,L., Beauchamp,M.H., Rouleau,G.A. and Michaud,J.L.
Journal Biol. Psychiatry 69 (9), 898-901 (2011)
Title De novo autosomal dominant mutation in SYNGAP1 .
Author Cook,E.H. Jr.
Journal Autism Res 4 (2), 155-156 (2011)
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 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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