Human Metabolome Database: Showing Protein Ras GTPase-activating protein SynGAP (HMDBP08175)

Identification Biological properties Gene properties Protein properties External links References XML Show 1 metabolite

Identification

HMDB Protein ID

HMDBP08175

Secondary Accession Numbers

13886

Name

Ras GTPase-activating protein SynGAP

Synonyms

Neuronal RasGAP
Synaptic Ras GTPase-activating protein 1
Synaptic Ras-GAP 1

Gene Name

SYNGAP1

Protein Type

Unknown

Biological Properties

General Function

Involved in GTPase activator activity

Specific 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. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits

Pathways

Not Available

Reactions

Not Available

GO Classification

Component
cell part
intracellular
Function
enzyme regulator activity
enzyme activator activity
gtpase activator activity
Process
biological regulation
regulation of biological process
regulation of cellular process
signal transduction
regulation of cell communication
regulation of signal transduction
regulation of small gtpase mediated signal transduction

Cellular Location

Not Available

Gene Properties

Chromosome Location

Chromosome:6

Locus

6p21.3

SNPs

SYNGAP1

Gene Sequence

>4032 bp
ATGAGCAGGTCTCGAGCCTCCATCCATCGGGGGAGCATCCCCGCGATGTCCTATGCCCCC
TTCAGAGATGTACGGGGACCCTCTATGCACCGAACCCAATACGTTCATTCCCCGTATGAT
CGTCCTGGTTGGAACCCTCGGTTCTGCATCATCTCGGGGAACCAGCTGCTCATGCTGGAT
GAGGATGAGATACACCCCCTACTGATCCGGGACCGGAGGAGCGAGTCCAGTCGCAACAAA
CTGCTGAGACGCACAGTCTCCGTGCCGGTGGAGGGGCGGCCCCACGGCGAGCATGAATAC
CACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGT
GCCCCTGCTGCGCCCTTCCGGCCCTCGCAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCC
ATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTG
CCTCGCTTCCGAAGTGCTGACCATGACCGGGCCCGGCTGATGCAAAGCTTTAAGGAGTCA
CACTCTCATGAGTCCTTGCTGAGTCCTAGCAGTGCAGCTGAGGCATTGGAGCTCAACTTG
GATGAAGATTCCATTATCAAGCCAGTGCACAGCTCCATCCTGGGCCAGGAGTTCTGTTTT
GAGGTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGAC
AAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGACAACAGCCGCCGGGTA
GACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTAC
TACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCT
GCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTC
CGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCA
GGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAG
CAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGA
GGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTG
CGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTT
GCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAAT
GTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAG
GCCAAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAG
CACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTG
ATTGGTCAGAAATACCTCAAGGATGCCATTGGAGAATTCATCCGTGCTCTGTATGAATCT
GAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAG
GCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGCGTG
TTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGC
CGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCA
GCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCA
CGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTTTACC
TCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATG
CAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAG
GGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTG
CCCCAGCTCAGCAAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGAC
ATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGG
CCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATG
CGGGACCTCAACAGCTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAGCTCT
ATGGACATGGCTCGCCTCCCCTCCCCAACCAAGGAAAAGCCACCCCCACCACCGCCTGGT
GGTGGTAAAGACCTGTTCTATGTAAGCCGTCCACCCCTGGCCCGTTCCTCACCAGCATAC
TGCACGAGCAGCTCGGACATCACAGAGCCAGAGCAGAAGATGCTGAGTGTCAACAAGAGT
GTGTCCATGCTGGACTTACAGGGTGATGGGCCTGGTGGCCGCCTCAACAGCAGCAGTGTT
TCGAACCTGGCGGCCGTAGGGGACCTGCTGCACTCAAGCCAGGCCTCGCTGACAGCAGCC
TTGGGGCTACGGCCTGCGCCTGCCGGACGCCTCTCCCAGGGGAGTGGCTCATCCATCACG
GCGGCTGGCATGCGCCTCAGCCAGATGGGTGTCACCACAGACGGTGTCCCTGCCCAGCAA
CTGCGAATCCCCCTCTCCTTCCAGAACCCTCTCTTCCACATGGCTGCTGATGGGCCAGGT
CCCCCAGGCGGCCATGGAGGGGGCGGTGGCCATGGCCCACCTTCCTCCCATCACCACCAC
CACCACCATCACCACCACCGAGGTGGAGAGCCCCCTGGGGACACCTTTGCCCCATTCCAT
GGCTATAGCAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCCCTGCTGCCTCCATC
CTTCATAGCCACAGCTACAGTGATGAGTTTGGACCCTCTGGCACTGACTTCACCCGTCGG
CAGCTTTCACTCCAGGACAACCTGCAGCACATGCTGTCCCCTCCCCAGATCACCATTGGT
CCCCAGAGGCCAGCCCCCTCAGGGCCTGGAGGTGGGAGCGGTGGGGGCAGCGGTGGGGGT
GGCGGGGGCCAGCCGCCTCCATTGCAGAGGGGCAAGTCTCAGCAGTTGACAGTCAGCGCA
GCCCAGAAACCCCGGCCATCCAGCGGGAATCTATTGCAGTCCCCAGAGCCAAGTTATGGC
CCCGCCCGTCCACGGCAACAGAGCCTCAGCAAGGAGGGCAGCATTGGGGGCAGCGGGGGC
AGCGGTGGCGGAGGGGGTGGGGGGCTGAAGCCCTCCATCACCAAGCAGCATTCTCAGACA
CCATCCACATTGAACCCCACAATGCCAGCCTCTGAGCGGACAGTGGCCTGGGTCTCCAAC
ATGCCTCACCTGTCGGCTGACATCGAGAGTGCCCACATCGAGCGGGAAGAGTACAAGCTC
AAGGAGTACTCAAAATCGATGGATGAGAGCCGGCTGGATAGGGTGAAGGAGTACGAGGAG
GAGATTCACTCACTGAAAGAGCGGCTGCACATGTCCAACCGGAAGCTGGAAGAGTATGAG
CGGAGGCTGCTGTCCCAGGAAGAACAAACCAGCAAAATCCTGATGCAGTATCAGGCCCGA
CTGGAGCAGAGTGAGAAGAGGCTAAGGCAGCAGCAGGCAGAGAAGGATTCCCAGATCAAG
AGCATCATTGGCAGGCTGATGCTGGTGGAGGAGGAGCTGCGCCGGGACCACCCCGCCATG
GCTGAGCCGCTGCCAGAACCCAAGAAGAGGCTGCTCGACGCTCAGGAGAGGCAGCTTCCC
CCCTTGGGTCCAACAAACCCGCGTGTGACGCTGGCCCCACCGTGGAATGGCCTGGCCCCC
CCAGCCCCACCACCCCCACCCCGGCTGCAGATTACGGAGAACGGCGAGTTCCGAAACACC
GCAGACCACTAG

Protein Properties

Number of Residues

1343

Molecular Weight

148282.7

Theoretical pI

9.31

Pfam Domain Function

C2 (PF00168 )
RasGAP; (PF00616 )
DUF3498 (PF12004 )

Signals

None

Transmembrane Regions

None

Protein Sequence

>Ras GTPase-activating protein SynGAP
MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLD
EDEIHPLLIRDRRSESSRNKLLRRTVSVPVEGRPHGEHEYHLGRSRRKSVPGGKQYSMEG
APAAPFRPSQGFLSRRLKSSIKRTKSQPKLDRTSSFRQILPRFRSADHDRARLMQSFKES
HSHESLLSPSSAAEALELNLDEDSIIKPVHSSILGQEFCFEVTTSSGTKCFACRSAAERD
KWIENLQRAVKPNKDNSRRVDNVLKLWIIEARELPPKKRYYCELCLDDMLYARTTSKPRS
ASGDTVFWGEHFEFNNLPAVRALRLHLYRDSDKKRKKDKAGYVGLVTVPVATLAGRHFTE
QWYPVTLPTGSGGSGGMGSGGGGGSGGGSGGKGKGGCPAVRLKARYQTMSILPMELYKEF
AEYVTNHYRMLCAVLEPALNVKGKEEVASALVHILQSTGKAKDFLSDMAMSEVDRFMERE
HLIFRENTLATKAIEEYMRLIGQKYLKDAIGEFIRALYESEENCEVDPIKCTASSLAEHQ
ANLRMCCELALCKVVNSHCVFPRELKEVFASWRLRCAERGREDIADRLISASLFLRFLCP
AIMSPSLFGLMQEYPDEQTSRTLTLIAKVIQNLANFSKFTSKEDFLGFMNEFLELEWGSM
QQFLYEISNLDTLTNSSSFEGYIDLGRELSTLHALLWEVLPQLSKEALLKLGPLPRLLND
ISTALRNPNIQRQPSRQSERPRPQPVVLRGPSAEMQGYMMRDLNSSIDLQSFMARGLNSS
MDMARLPSPTKEKPPPPPPGGGKDLFYVSRPPLARSSPAYCTSSSDITEPEQKMLSVNKS
VSMLDLQGDGPGGRLNSSSVSNLAAVGDLLHSSQASLTAALGLRPAPAGRLSQGSGSSIT
AAGMRLSQMGVTTDGVPAQQLRIPLSFQNPLFHMAADGPGPPGGHGGGGGHGPPSSHHHH
HHHHHHRGGEPPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFGPSGTDFTRR
QLSLQDNLQHMLSPPQITIGPQRPAPSGPGGGSGGGSGGGGGGQPPPLQRGKSQQLTVSA
AQKPRPSSGNLLQSPEPSYGPARPRQQSLSKEGSIGGSGGSGGGGGGGLKPSITKQHSQT
PSTLNPTMPASERTVAWVSNMPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEE
EIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIK
SIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAP
PAPPPPPRLQITENGEFRNTADH

External Links

GenBank ID Protein

194248068

UniProtKB/Swiss-Prot ID

Q96PV0

UniProtKB/Swiss-Prot Entry Name

SYGP1_HUMAN

PDB IDs

Not Available

GenBank Gene ID

GeneCard ID

GenAtlas ID

HGNC ID

References

General References

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Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed:17974005 ]
Nagase T, Kikuno R, Ohara O: 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. DNA Res. 2001 Aug 31;8(4):179-87. [PubMed:11572484 ]
Krapivinsky G, Medina I, Krapivinsky L, Gapon S, Clapham DE: SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. Neuron. 2004 Aug 19;43(4):563-74. [PubMed:15312654 ]
Hamdan FF, 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 AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafreniere RG, Lacaille JC, Rouleau GA, Michaud JL: Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med. 2009 Feb 5;360(6):599-605. doi: 10.1056/NEJMoa0805392. [PubMed:19196676 ]