InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SYNGAP1

Summary

InnateDB Protein

IDBP-375876.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SYNGAP1

Protein Name

synaptic Ras GTPase activating protein 1

Synonyms

MRD5; RASA1; RASA5; SYNGAP;

Species

Homo sapiens

Ensembl Protein

ENSP00000412475

InnateDB Gene

IDBG-82927 (SYNGAP1)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Disease Associations

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. {ECO:0000269PubMed:19196676, ECO:0000269PubMed:21076407, ECO:0000269PubMed:21237447, ECO:0000269PubMed:23161826}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005096	GTPase activator activity
GO:0005099	Ras GTPase activator activity
GO:0005515	protein binding
GO:0017124	SH3 domain binding

Biological Process

GO:0007165	signal transduction
GO:0032320	positive regulation of Ras GTPase activity
GO:0046580	negative regulation of Ras protein signal transduction
GO:0048167	regulation of synaptic plasticity
GO:0051056	regulation of small GTPase mediated signal transduction

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000008 C2 domain
IPR001849 Pleckstrin homology domain
IPR001936 Ras GTPase-activating protein
IPR008936 Rho GTPase activation protein
IPR021887 Protein of unknown function DUF3498

PFAM

PF00168
PF00169
PF00616
PF12004

PRINTS

PR00360

PIRSF

SMART

SM00239
SM00233
SM00323

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt