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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006772 Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_006772.2, 194248067
Length 6011 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.
Product ras/Rap 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)559..1134
Misc Feature(2)559..1134
Misc Feature(3)949..1437
Misc Feature(4)1408..2379
Misc Feature(5)order(1525..1527,1636..1638,1642..1644,1648..1653,
Misc Feature(6)2347..4131
Misc Feature(7)2548..2640
Misc Feature(8)<3697..4089
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
309+g, tdbSNP:370803544
393+dbSNP:
393+c, tdbSNP:73402305
411+c, gdbSNP:200068811
423+c, tdbSNP:147049139
451+c, gdbSNP:374819241
574+dbSNP:
574+c, tdbSNP:192116921
606+dbSNP:
606+, adbSNP:34885339
607+a, tdbSNP:121918315
622+c, tdbSNP:397514741
696+c, tdbSNP:138286163
709+dbSNP:
709+c, tdbSNP:142649710
781+c, tdbSNP:145694123
907+dbSNP:
907+a, gdbSNP:138903637
1023+dbSNP:
1023+c, tdbSNP:376271258
1026+a, gdbSNP:149394351
1110+c, tdbSNP:370654601
1134+a, gdbSNP:373371204
1235+a, cdbSNP:201787289
1261+c, tdbSNP:144778033
1331+c, tdbSNP:371883908
1393+c, gdbSNP:201020155
1404+a, gdbSNP:185407862
1493+c, tdbSNP:200213875
1504+c, tdbSNP:374951814
1619+dbSNP:
1619+a, gdbSNP:138609496
1641+a, cdbSNP:370597423
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
1778+c, tdbSNP:368153728
1851+c, tdbSNP:142692732
1880+dbSNP:
1880+c, tdbSNP:397514670
complement(1908)-t, cdbSNP: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
2157+a, gdbSNP:373857862
2167+a, gdbSNP:372231550
2211+a, gdbSNP:57365292
2242+a, gdbSNP:147668681
2293+c, tdbSNP:375292597
2313+dbSNP:
2313+a, gdbSNP:149131236
2316+c, tdbSNP:143401233
2402+a, gdbSNP:151334677
2437+c, tdbSNP:377301201
2451+a, gdbSNP:373755298
2470+a, gdbSNP:369386806
2483+g, tdbSNP:373555477
2511+dbSNP:
2511+c, tdbSNP:182565988
2529+c, tdbSNP:199759879
2534+dbSNP:
2534+c, gdbSNP:140592564
2549+c, gdbSNP:202023175
2557+c, tdbSNP:201062426
2576+c, tdbSNP:375837477
2588+c, tdbSNP:369972072
2589+a, g, tdbSNP:138404495
2607+c, tdbSNP:141645280
2633+, tdbSNP:397515320
2639+g, tdbSNP:372737279
2661+a, gdbSNP:145297490
2763+c, tdbSNP:137894267
2778+a, gdbSNP:375587730
2853+a, gdbSNP:149467343
2864+a, gdbSNP:369681579
2890+a, gdbSNP:143862418
2899+a, gdbSNP:148703943
2952+a, gdbSNP:367820928
3040+a, gdbSNP:141341400
3138+c, tdbSNP:202074092
3156+a, cdbSNP:373816535
3165+c, tdbSNP:61421477
3166+a, gdbSNP:145472959
3329+c, gdbSNP:139759084
3337+g, tdbSNP:11756959
3370+a, gdbSNP:371016945
3394+c, gdbSNP:375238766
3432+a, cdbSNP:149779350
3468+a, gdbSNP:145707539
3492+c, tdbSNP:149016890
3495+c, tdbSNP:376651153
3519+, cdbSNP:35337985
3519+c, tdbSNP:139841529
3539+c, tdbSNP:191549504
3629+dbSNP:
3629+a, gdbSNP:373372490
3643+g, tdbSNP:376951427
3690+a, gdbSNP:200386206
3695+a, gdbSNP:112387978
3709+a, cdbSNP:375443723
3829+dbSNP:
3829+c, tdbSNP:112764125
3978+c, tdbSNP:202136046
4053+dbSNP:
4053+a, tdbSNP:139853969
4096+dbSNP:
4096+a, cdbSNP:368894185
4097+c, gdbSNP:199694815
4137+a, gdbSNP:372190836
4197+c, tdbSNP:201509029
4262+a, tdbSNP:367907637
4283+a, gdbSNP:371821639
4368+c, tdbSNP:186837972
4415+c, tdbSNP:138935161
4439+a, gdbSNP:149438267
4481+c, tdbSNP:56250036
4687+c, tdbSNP:374819728
4784+c, tdbSNP:375628259
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 Stock Status Price Turnaround time Business Day Select
NM_006772 Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. On-demand $1699.00 25
Title Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 .
Author Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Moller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE and Mefford HC.
Journal Nat. Genet. 45 (7), 825-830 (2013)
Title Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency .
Author Berryer MH, Hamdan FF, Klitten LL, Moller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL and Di Cristo G.
Journal Hum. Mutat. 34 (2), 385-394 (2013)
Title De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism .
Author Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA and Michaud JL.
Journal Biol. Psychiatry 69 (9), 898-901 (2011)
Title De novo autosomal dominant mutation in SYNGAP1 .
Author Cook EH Jr.
Journal Autism Res 4 (2), 155-156 (2011)
Title [De novo mutations in SYNGAP1 associated with non-syndromic mental retardation] .
Author Hamdan FF, Gauthier J, Rouleau GA and Michaud JL.
Journal Med Sci (Paris) 26 (2), 133-135 (2010)
Title Proteomic analysis of NMDA receptor-adhesion protein signaling complexes .
Author Husi H, Ward MA, Choudhary JS, Blackstock WP and Grant SG.
Journal Nat. Neurosci. 3 (7), 661-669 (2000)
Title A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II .
Author Chen HJ, Rojas-Soto M, Oguni A and Kennedy MB.
Journal Neuron 20 (5), 895-904 (1998)
Title SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family .
Author Kim JH, Liao D, Lau LF and Huganir RL.
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 WJ, Escobedo JA, Martin GA, Turck CW, del Rosario M, McCormick F and Williams LT.
Journal Cell 69 (3), 413-423 (1992)

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