SYNGAP1
entrez
8831
canonical
uniprot
Q96PV0
canonical
ensembl
ENSG00000197283
resolver
ensembl
ENSG00000227460
resolver
ensp
ENSP00000403636
resolver
ensp
ENSP00000412475
resolver
ensp
ENSP00000416519
resolver
ensp
ENSP00000486431
resolver
ensp
ENSP00000496007
resolver
enst
ENST00000449372
resolver
genesymbol
SYNGAP1
resolver
genesymbol_syn
KIAA1938
resolver
hgnc
HGNC:11497
resolver
uniprot
A2AB17
resolver
uniprot
A2BEL6
resolver
uniprot
A2BEL7
resolver
uniprot
A8MQC4
resolver
uniprot
B7ZCA0
resolver
uniprot
Q8TCS2
resolver
uniprot
Q9UGE2
resolver
uniprot_entry
B7ZCA0_HUMAN
resolver
uniprot_entry
SYGP1_HUMAN
resolver
uniprot_sec
A2AB17
resolver
uniprot_sec
A2BEL6
resolver
uniprot_sec
A2BEL7
resolver
uniprot_sec
A8MQC4
resolver
uniprot_sec
Q8TCS2
resolver
uniprot_sec
Q9UGE2
resolver
amino_acid_sequence
MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLDEDEIHPLLIRDRRSESSRNKLLRRTVSVPVEGRPHGEHEYHLGRSRRKSVPGGKQYSMEGAPAAPFRPSQGFLSRRLKSSIKRTKSQPKLDRTSSFRQILPRFRSADHDRARLMQSFKESHSHESLLSPSSAAEALELNLDEDSIIKPVHSSILGQEFCFEVTTSSGTKCFACRSAAERDKWIENLQRAVKPNKDNSRRVDNVLKLWIIEARELPPKKRYYCELCLDDMLYARTTSKPRSASGDTVFWGEHFEFNNLPAVRALRLHLYRDSDKKRKKDKAGYVGLVTVPVATLAGRHFTEQWYPVTLPTGSGGSGGMGSGGGGGSGGGSGGKGKGGCPAVRLKARYQTMSILPMELYKEFAEYVTNHYRMLCAVLEPALNVKGKEEVASALVHILQSTGKAKDFLSDMAMSEVDRFMEREHLIFRENTLATKAIEEYMRLIGQKYLKDAIGEFIRALYESEENCEVDPIKCTASSLAEHQANLRMCCELALCKVVNSHCVFPRELKEVFASWRLRCAERGREDIADRLISASLFLRFLCPAIMSPSLFGLMQEYPDEQTSRTLTLIAKVIQNLANFSKFTSKEDFLGFMNEFLELEWGSMQQFLYEISNLDTLTNSSSFEGYIDLGRELSTLHALLWEVLPQLSKEALLKLGPLPRLLNDISTALRNPNIQRQPSRQSERPRPQPVVLRGPSAEMQGYMMRDLNSSIDLQSFMARGLNSSMDMARLPSPTKEKPPPPPPGGGKDLFYVSRPPLARSSPAYCTSSSDITEPEQKMLSVNKSVSMLDLQGDGPGGRLNSSSVSNLAAVGDLLHSSQASLTAALGLRPAPAGRLSQGSGSSITAAGMRLSQMGVTTDGVPAQQLRIPLSFQNPLFHMAADGPGPPGGHGGGGGHGPPSSHHHHHHHHHHRGGEPPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFGPSGTDFTRRQLSLQDNLQHMLSPPQITIGPQRPAPSGPGGGSGGGSGGGGGGQPPPLQRGKSQQLTVSAAQKPRPSSGNLLQSPEPSYGPARPRQQSLSKEGSIGGSGGSGGGGGGGLKPSITKQHSQTPSTLNPTMPASERTVAWVSNMPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEEEIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIKSIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, 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 intellectual disability, and severe language impairment. Epilepsy and autism can be present in some patients. {ECO:0000269|PubMed:19196676, ECO:0000269|PubMed:21076407, ECO:0000269|PubMed:21237447, ECO:0000269|PubMed:23161826, ECO:0000269|PubMed:23708187}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250}.
uniprot
proteins
mass_dalton
148284
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Phosphorylation by PLK2 promotes its activity (By similarity). {ECO:0000250}.
uniprot
proteins
pubmed
11572484
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15312654
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19196676
uniprot
proteins
pubmed
21076407
uniprot
proteins
pubmed
21237447
uniprot
proteins
pubmed
23161826
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
27864847
uniprot
proteins
sequence_length
1343
uniprot
proteins