InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SYNGAP1

Summary

InnateDB Gene

IDBG-82927.6

Last Modified

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

Gene Symbol

SYNGAP1

Gene Name

synaptic Ras GTPase activating protein 1

Synonyms

MRD5; RASA1; RASA5; SYNGAP

Species

Homo sapiens

Ensembl Gene

ENSG00000197283

Encoded Proteins

IDBP-82929

synaptic Ras GTPase activating protein 1

IDBP-375874

synaptic Ras GTPase activating protein 1

IDBP-375875

synaptic Ras GTPase activating protein 1

IDBP-375876

synaptic Ras GTPase activating protein 1

IDBP-810788

synaptic Ras GTPase activating protein 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:33420070-33453689

Strand

Forward strand

Band

p21.32

Transcripts

ENST00000293748	ENSP00000293748
ENST00000418600	ENSP00000403636
ENST00000449372	ENSP00000416519
ENST00000428982	ENSP00000412475
ENST00000479510
ENST00000495633
ENST00000486399	ENSP00000478832
ENST00000470232

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:0005097	Rab 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:0007265	Ras protein signal transduction
GO:0007389	pattern specification process
GO:0008542	visual learning
GO:0016358	dendrite development
GO:0032320	positive regulation of Ras GTPase activity
GO:0032851	positive regulation of Rab GTPase activity
GO:0043113	receptor clustering
GO:0043408	regulation of MAPK cascade
GO:0043524	negative regulation of neuron apoptotic process
GO:0043547	positive regulation of GTPase activity
GO:0046580	negative regulation of Ras protein signal transduction
GO:0048167	regulation of synaptic plasticity
GO:0048169	regulation of long-term neuronal synaptic plasticity
GO:0050771	negative regulation of axonogenesis
GO:0050803	regulation of synapse structure and activity
GO:0051056	regulation of small GTPase mediated signal transduction

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0016020	membrane
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane
GO:0043198	dendritic shaft

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000067629

View Gene Order

ENSBTAG00000020975

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

ras_pathway

Regulation of Ras family activation

Cross-References

SwissProt

Q96PV0

TrEMBL

UniProt Splice Variant

Entrez Gene

8831

UniGene

Hs.586264 Hs.595008

RefSeq

NM_006772

HUGO

HGNC:11497

OMIM

603384

CCDS

CCDS34434

HPRD

16018

IMGT

EMBL

AB067525 AL021366 AL662799 AL713634 BX088650

GenPept

BAB67831 CAA16161 CAD28452 CAI18276 CAM25572 CAM26304 CAM26305 CAM26306

RNA Seq Atlas

8831