Q96PV0 (SYGP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ras/Rap GTPase-activating protein SynGAP

Alternative name(s):
Neuronal RasGAP
Synaptic Ras GTPase-activating protein 1
Short name=Synaptic Ras-GAP 1

Gene names

Name:	SYNGAP1
Synonyms:	KIAA1938

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1343 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subunit structure	Interacts KLHL17, CAMK2A and CAMK2B By similarity. Interacts with MPDZ. Ref.4
Domain	The C2 domain is required for RapGAP activity By similarity.
Post-translational modification	Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Phosphorylation by PLK2 promotes its activity By similarity.
Involvement in disease	Mental retardation, autosomal dominant 5 (MRD5) [MIM:612621]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment. Epilepsy and autism can be present in some patients. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6 Ref.7 Ref.8
Sequence similarities	Contains 1 C2 domain. Contains 1 PH domain. Contains 1 Ras-GAP domain.
Caution	It is uncertain whether Met-1 or Met-16 is the initiator methionine.
Sequence caution	The sequence BAB67831.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Mental retardation
Domain	SH3-binding
Molecular function	GTPase activation
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Ras protein signal transduction Inferred from electronic annotation. Source: Ensembl dendrite development Inferred from electronic annotation. Source: Ensembl negative regulation of Ras protein signal transduction Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of apoptotic process Inferred from electronic annotation. Source: Ensembl negative regulation of axonogenesis Inferred from electronic annotation. Source: Ensembl pattern specification process Inferred from electronic annotation. Source: Ensembl receptor clustering Inferred from electronic annotation. Source: Ensembl regulation of MAPK cascade Inferred from electronic annotation. Source: Ensembl regulation of long-term neuronal synaptic plasticity Inferred from electronic annotation. Source: Ensembl regulation of synapse structure and activity Inferred from electronic annotation. Source: Ensembl regulation of synaptic plasticity Inferred from sequence or structural similarity. Source: UniProtKB visual learning Inferred from electronic annotation. Source: Ensembl
Cellular_component	cytoplasm Inferred from Biological aspect of Ancestor. Source: RefGenome dendritic shaft Inferred from electronic annotation. Source: Ensembl intrinsic to internal side of plasma membrane Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	Rab GTPase activator activity Inferred from electronic annotation. Source: Ensembl Ras GTPase activator activity Inferred from Biological aspect of Ancestor. Source: RefGenome phospholipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q96PV0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96PV0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1265-1343: RLMLVEEELR...NGEFRNTADH → SPSLQADAGGGGAAPGPPRHG

Isoform 3 (identifier: Q96PV0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MSRSRASIHR...PVEGRPHGEH → MGLRPPTPSP...RRCSSCCFPG

Isoform 4 (identifier: Q96PV0-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1296-1343: ERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH → LLIR

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1343	1343	Ras/Rap GTPase-activating protein SynGAP		PRO_0000056654
Regions
	Domain	150 – 251	102	PH
	Domain	249 – 347	99	C2
	Domain	443 – 635	193	Ras-GAP
	Motif	785 – 815	31	SH3-binding Potential
Amino acid modifications
	Modified residue	34	1	Phosphotyrosine By similarity
	Modified residue	39	1	Phosphotyrosine By similarity
	Modified residue	379	1	Phosphoserine By similarity
	Modified residue	385	1	Phosphoserine; by PLK2 By similarity
	Modified residue	449	1	Phosphoserine; by PLK2 By similarity
	Modified residue	466	1	Phosphoserine; by PLK2 By similarity
	Modified residue	836	1	Phosphoserine; by PLK2 By similarity
	Modified residue	840	1	Phosphoserine; by PLK2 By similarity
	Modified residue	842	1	Phosphoserine; by PLK2 By similarity
	Modified residue	895	1	Phosphoserine; by PLK2 By similarity
	Modified residue	1204	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 98	98	MSRSR…PHGEH → MGLRPPTPSPSGGSCSGSLP PPSRCQPLRRRCSSCCFPG in isoform 3.		VSP_026376
	Alternative sequence	1265 – 1343	79	RLMLV…NTADH → SPSLQADAGGGGAAPGPPRH G in isoform 2.		VSP_007973
	Alternative sequence	1296 – 1343	48	ERQLP…NTADH → LLIR in isoform 4.		VSP_026377
	Natural variant	201	1	D → E. Ref.5		VAR_065078
	Natural variant	362	1	W → R in MRD5; the disease phenotype consists of intellectual disability, autism and epilepsy; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. Ref.8		VAR_069232
	Natural variant	562	1	P → L in MRD5; the disease phenotype consists of intellectual disability and autism; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. Ref.8		VAR_069233
	Natural variant	749	1	R → Q. Ref.5		VAR_065079
	Natural variant	790	1	T → N. Ref.5		VAR_065080
	Natural variant	991	1	G → R. Ref.7		VAR_065081
	Natural variant	1115	1	I → T. Ref.5 Ref.7 Corresponds to variant rs191549504 [ dbSNP | Ensembl ].		VAR_065082
	Natural variant	1283	1	P → L. Ref.5		VAR_065083
	Natural variant	1310	1	T → M. Ref.5		VAR_065084

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 26, 2007. Version 4. Checksum: D9ABE21054677AA0	FASTA	1,343	148,284
	10 20 30 40 50 60 MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI ISGNQLLMLD 70 80 90 100 110 120 EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY HLGRSRRKSV PGGKQYSMEG 130 140 150 160 170 180 APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL DRTSSFRQIL PRFRSADHDR ARLMQSFKES 190 200 210 220 230 240 HSHESLLSPS SAAEALELNL DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD 250 260 270 280 290 300 KWIENLQRAV KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS 310 320 330 340 350 360 ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV ATLAGRHFTE 370 380 390 400 410 420 QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV RLKARYQTMS ILPMELYKEF 430 440 450 460 470 480 AEYVTNHYRM LCAVLEPALN VKGKEEVASA LVHILQSTGK AKDFLSDMAM SEVDRFMERE 490 500 510 520 530 540 HLIFRENTLA TKAIEEYMRL IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ 550 560 570 580 590 600 ANLRMCCELA LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP 610 620 630 640 650 660 AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN EFLELEWGSM 670 680 690 700 710 720 QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL PQLSKEALLK LGPLPRLLND 730 740 750 760 770 780 ISTALRNPNI QRQPSRQSER PRPQPVVLRG PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS 790 800 810 820 830 840 MDMARLPSPT KEKPPPPPPG GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS 850 860 870 880 890 900 VSMLDLQGDG PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT 910 920 930 940 950 960 AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG HGPPSSHHHH 970 980 990 1000 1010 1020 HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI LHSHSYSDEF GPSGTDFTRR 1030 1040 1050 1060 1070 1080 QLSLQDNLQH MLSPPQITIG PQRPAPSGPG GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA 1090 1100 1110 1120 1130 1140 AQKPRPSSGN LLQSPEPSYG PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT 1150 1160 1170 1180 1190 1200 PSTLNPTMPA SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE 1210 1220 1230 1240 1250 1260 EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ QQAEKDSQIK 1270 1280 1290 1300 1310 1320 SIIGRLMLVE EELRRDHPAM AEPLPEPKKR LLDAQERQLP PLGPTNPRVT LAPPWNGLAP 1330 1340 PAPPPPPRLQ ITENGEFRNT ADH
	Isoform 2 [UniParc]. Checksum: A9353354EF091FD6	FASTA	1,285	141,248
	10 20 30 40 50 60 MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI ISGNQLLMLD 70 80 90 100 110 120 EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY HLGRSRRKSV PGGKQYSMEG 130 140 150 160 170 180 APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL DRTSSFRQIL PRFRSADHDR ARLMQSFKES 190 200 210 220 230 240 HSHESLLSPS SAAEALELNL DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD 250 260 270 280 290 300 KWIENLQRAV KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS 310 320 330 340 350 360 ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV ATLAGRHFTE 370 380 390 400 410 420 QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV RLKARYQTMS ILPMELYKEF 430 440 450 460 470 480 AEYVTNHYRM LCAVLEPALN VKGKEEVASA LVHILQSTGK AKDFLSDMAM SEVDRFMERE 490 500 510 520 530 540 HLIFRENTLA TKAIEEYMRL IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ 550 560 570 580 590 600 ANLRMCCELA LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP 610 620 630 640 650 660 AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN EFLELEWGSM 670 680 690 700 710 720 QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL PQLSKEALLK LGPLPRLLND 730 740 750 760 770 780 ISTALRNPNI QRQPSRQSER PRPQPVVLRG PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS 790 800 810 820 830 840 MDMARLPSPT KEKPPPPPPG GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS 850 860 870 880 890 900 VSMLDLQGDG PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT 910 920 930 940 950 960 AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG HGPPSSHHHH 970 980 990 1000 1010 1020 HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI LHSHSYSDEF GPSGTDFTRR 1030 1040 1050 1060 1070 1080 QLSLQDNLQH MLSPPQITIG PQRPAPSGPG GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA 1090 1100 1110 1120 1130 1140 AQKPRPSSGN LLQSPEPSYG PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT 1150 1160 1170 1180 1190 1200 PSTLNPTMPA SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE 1210 1220 1230 1240 1250 1260 EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ QQAEKDSQIK 1270 1280 SIIGSPSLQA DAGGGGAAPG PPRHG
	Isoform 3 [UniParc]. Checksum: 73BCEF16133B6D77	FASTA	1,284	140,929
	10 20 30 40 50 60 MGLRPPTPSP SGGSCSGSLP PPSRCQPLRR RCSSCCFPGE YHLGRSRRKS VPGGKQYSME 70 80 90 100 110 120 GAPAAPFRPS QGFLSRRLKS SIKRTKSQPK LDRTSSFRQI LPRFRSADHD RARLMQSFKE 130 140 150 160 170 180 SHSHESLLSP SSAAEALELN LDEDSIIKPV HSSILGQEFC FEVTTSSGTK CFACRSAAER 190 200 210 220 230 240 DKWIENLQRA VKPNKDNSRR VDNVLKLWII EARELPPKKR YYCELCLDDM LYARTTSKPR 250 260 270 280 290 300 SASGDTVFWG EHFEFNNLPA VRALRLHLYR DSDKKRKKDK AGYVGLVTVP VATLAGRHFT 310 320 330 340 350 360 EQWYPVTLPT GSGGSGGMGS GGGGGSGGGS GGKGKGGCPA VRLKARYQTM SILPMELYKE 370 380 390 400 410 420 FAEYVTNHYR MLCAVLEPAL NVKGKEEVAS ALVHILQSTG KAKDFLSDMA MSEVDRFMER 430 440 450 460 470 480 EHLIFRENTL ATKAIEEYMR LIGQKYLKDA IGEFIRALYE SEENCEVDPI KCTASSLAEH 490 500 510 520 530 540 QANLRMCCEL ALCKVVNSHC VFPRELKEVF ASWRLRCAER GREDIADRLI SASLFLRFLC 550 560 570 580 590 600 PAIMSPSLFG LMQEYPDEQT SRTLTLIAKV IQNLANFSKF TSKEDFLGFM NEFLELEWGS 610 620 630 640 650 660 MQQFLYEISN LDTLTNSSSF EGYIDLGREL STLHALLWEV LPQLSKEALL KLGPLPRLLN 670 680 690 700 710 720 DISTALRNPN IQRQPSRQSE RPRPQPVVLR GPSAEMQGYM MRDLNSSIDL QSFMARGLNS 730 740 750 760 770 780 SMDMARLPSP TKEKPPPPPP GGGKDLFYVS RPPLARSSPA YCTSSSDITE PEQKMLSVNK 790 800 810 820 830 840 SVSMLDLQGD GPGGRLNSSS VSNLAAVGDL LHSSQASLTA ALGLRPAPAG RLSQGSGSSI 850 860 870 880 890 900 TAAGMRLSQM GVTTDGVPAQ QLRIPLSFQN PLFHMAADGP GPPGGHGGGG GHGPPSSHHH 910 920 930 940 950 960 HHHHHHHRGG EPPGDTFAPF HGYSKSEDLS SGVPKPPAAS ILHSHSYSDE FGPSGTDFTR 970 980 990 1000 1010 1020 RQLSLQDNLQ HMLSPPQITI GPQRPAPSGP GGGSGGGSGG GGGGQPPPLQ RGKSQQLTVS 1030 1040 1050 1060 1070 1080 AAQKPRPSSG NLLQSPEPSY GPARPRQQSL SKEGSIGGSG GSGGGGGGGL KPSITKQHSQ 1090 1100 1110 1120 1130 1140 TPSTLNPTMP ASERTVAWVS NMPHLSADIE SAHIEREEYK LKEYSKSMDE SRLDRVKEYE 1150 1160 1170 1180 1190 1200 EEIHSLKERL HMSNRKLEEY ERRLLSQEEQ TSKILMQYQA RLEQSEKRLR QQQAEKDSQI 1210 1220 1230 1240 1250 1260 KSIIGRLMLV EEELRRDHPA MAEPLPEPKK RLLDAQERQL PPLGPTNPRV TLAPPWNGLA 1270 1280 PPAPPPPPRL QITENGEFRN TADH
	Isoform 4 [UniParc]. Checksum: AC4DC1FF002B7075	FASTA	1,299	143,569
	10 20 30 40 50 60 MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI ISGNQLLMLD 70 80 90 100 110 120 EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY HLGRSRRKSV PGGKQYSMEG 130 140 150 160 170 180 APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL DRTSSFRQIL PRFRSADHDR ARLMQSFKES 190 200 210 220 230 240 HSHESLLSPS SAAEALELNL DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD 250 260 270 280 290 300 KWIENLQRAV KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS 310 320 330 340 350 360 ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV ATLAGRHFTE 370 380 390 400 410 420 QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV RLKARYQTMS ILPMELYKEF 430 440 450 460 470 480 AEYVTNHYRM LCAVLEPALN VKGKEEVASA LVHILQSTGK AKDFLSDMAM SEVDRFMERE 490 500 510 520 530 540 HLIFRENTLA TKAIEEYMRL IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ 550 560 570 580 590 600 ANLRMCCELA LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP 610 620 630 640 650 660 AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN EFLELEWGSM 670 680 690 700 710 720 QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL PQLSKEALLK LGPLPRLLND 730 740 750 760 770 780 ISTALRNPNI QRQPSRQSER PRPQPVVLRG PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS 790 800 810 820 830 840 MDMARLPSPT KEKPPPPPPG GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS 850 860 870 880 890 900 VSMLDLQGDG PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT 910 920 930 940 950 960 AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG HGPPSSHHHH 970 980 990 1000 1010 1020 HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI LHSHSYSDEF GPSGTDFTRR 1030 1040 1050 1060 1070 1080 QLSLQDNLQH MLSPPQITIG PQRPAPSGPG GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA 1090 1100 1110 1120 1130 1140 AQKPRPSSGN LLQSPEPSYG PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT 1150 1160 1170 1180 1190 1200 PSTLNPTMPA SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE 1210 1220 1230 1240 1250 1260 EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ QQAEKDSQIK 1270 1280 1290 SIIGRLMLVE EELRRDHPAM AEPLPEPKKR LLDAQLLIR

References

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[1]	"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins." Nagase T., Kikuno R., Ohara O. DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 384-1343 (ISOFORM 2). Tissue: Amygdala.
[4]	"SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation." Krapivinsky G., Medina I., Krapivinsky L., Gapon S., Clapham D.E. Neuron 43:563-574(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MPDZ.
[5]	"Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation." Synapse to disease group Hamdan F.F., Gauthier J., Spiegelman D., Noreau A., Yang Y., Pellerin S., Dobrzeniecka S., Cote M., Perreault-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., Michaud J.L. N. Engl. J. Med. 360:599-605(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MRD5, VARIANTS GLU-201; GLN-749; ASN-790; THR-1115; LEU-1283 AND MET-1310.
[6]	"A de novo paradigm for mental retardation." Vissers L.E., de Ligt J., Gilissen C., Janssen I., Steehouwer M., de Vries P., van Lier B., Arts P., Wieskamp N., del Rosario M., van Bon B.W., Hoischen A., de Vries B.B., Brunner H.G., Veltman J.A. Nat. Genet. 42:1109-1112(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MRD5.
[7]	"De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism." 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., Michaud J.L. Biol. Psychiatry 69:898-901(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MRD5, VARIANTS ARG-991 AND THR-1115.
[8]	"Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency." Berryer M.H., Hamdan F.F., Klitten L.L., Moller R.S., Carmant L., Schwartzentruber J., Patry L., Dobrzeniecka S., Rochefort D., Neugnot-Cerioli M., Lacaille J.C., Niu Z., Eng C.M., Yang Y., Palardy S., Belhumeur C., Rouleau G.A., Tommerup N. , Immken L., Beauchamp M.H., Patel G.S., Majewski J., Tarnopolsky M.A., Scheffzek K., Hjalgrim H., Michaud J.L., Di Cristo G. Hum. Mutat. 34:385-394(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MRD5 ARG-362 AND LEU-562, CHARACTERIZATION OF VARIANTS MRD5 ARG-362 AND LEU-562.

Web resources

Synaptic Ras GTPase activating protein 1 homolog (rat) (SYNGAP1)

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB067525 mRNA. Translation: BAB67831.2. Different initiation. AL021366 Genomic DNA. Translation: CAA16161.1. AL662799 Genomic DNA. Translation: CAI18276.2. AL662799 Genomic DNA. Translation: CAM25572.1. BX088650 Genomic DNA. Translation: CAM26304.1. BX088650 Genomic DNA. Translation: CAM26305.1. BX088650 Genomic DNA. Translation: CAM26306.1. AL713634 mRNA. Translation: CAD28452.1.
IPI	IPI00177884. IPI00337790. IPI00796859. IPI00847493.
RefSeq	NP_006763.2. NM_006772.2. XP_005249519.1. XM_005249462.1. XP_005275684.1. XM_005275627.1.
UniGene	Hs.586264.
3D structure databases
ProteinModelPortal	Q96PV0.
SMR	Q96PV0. Positions 260-368, 401-734.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96PV0. 6 interactions.
STRING	9606.ENSP00000403636.
PTM databases
PhosphoSite	Q96PV0.
Polymorphism databases
DMDM	150421676.
Proteomic databases
PaxDb	Q96PV0.
PRIDE	Q96PV0.
Protocols and materials databases
DNASU	8831.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000293748; ENSP00000293748; ENSG00000197283. ENST00000395071; ENSP00000378509; ENSG00000227460. ENST00000414753; ENSP00000407995; ENSG00000227460. ENST00000418600; ENSP00000403636; ENSG00000197283. ENST00000428982; ENSP00000412475; ENSG00000197283. ENST00000455687; ENSP00000414259; ENSG00000227460. ENST00000551507; ENSP00000446753; ENSG00000227460.
GeneID	8831.
KEGG	hsa:8831.
UCSC	uc010juz.3. human.
Organism-specific databases
CTD	8831.
GeneCards	GC06P033387.
HGNC	HGNC:11497. SYNGAP1.
HPA	HPA038373.
MIM	603384. gene. 612621. phenotype.
neXtProt	NX_Q96PV0.
Orphanet	178469. Autosomal dominant nonsyndromic intellectual deficit.
PharmGKB	PA36279.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG245428.
HOVERGEN	HBG006492.
InParanoid	Q96PV0.
KO	K17631.
OMA	NPHIQRQ.
Gene expression databases
ArrayExpress	Q96PV0.
Bgee	Q96PV0.
CleanEx	HS_SYNGAP1.
Genevestigator	Q96PV0.
Family and domain databases
Gene3D	1.10.506.10. 1 hit. 2.20.170.10. 1 hit. 2.30.29.30. 2 hits.
InterPro	IPR000008. C2_dom. IPR021887. DUF3498. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR001936. RasGAP. IPR023152. RasGAP_CS. IPR008936. Rho_GTPase_activation_prot. IPR023315. SynGAP_C2_N. [Graphical view]
Pfam	PF00168. C2. 1 hit. PF12004. DUF3498. 1 hit. PF00616. RasGAP. 1 hit. [Graphical view]
SMART	SM00239. C2. 1 hit. SM00233. PH. 1 hit. SM00323. RasGAP. 1 hit. [Graphical view]
SUPFAM	SSF48350. SSF48350. 1 hit. SSF49562. SSF49562. 1 hit.
PROSITE	PS50004. C2. False negative. PS50003. PH_DOMAIN. 1 hit. PS00509. RAS_GTPASE_ACTIV_1. 1 hit. PS50018. RAS_GTPASE_ACTIV_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GeneWiki	SYNGAP1.
GenomeRNAi	8831.
NextBio	33144.
PRO	Q96PV0.
SOURCE	Search...

Entry information

Entry name

SYGP1_HUMAN

Accession

Primary (citable) accession number: Q96PV0
Secondary accession number(s): A2AB17 , A2BEL6, A2BEL7, A8MQC4, Q8TCS2, Q9UGE2

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 15, 2003
Last sequence update:	June 26, 2007
Last modified:	December 11, 2013
This is version 106 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.