SYNGAP1 information

SYNGAP1
Identifiers
Aliases	SYNGAP1, MRD5, RASA1, RASA5, SYNGAP, synaptic Ras GTPase activating protein 1
External IDs	OMIM: 603384; MGI: 3039785; HomoloGene: 84739; GeneCards: SYNGAP1; OMA:SYNGAP1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	33,453,689 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	26,972,434 bp
RNA expression pattern
	Top expressed in
	pituitary gland; ; right uterine tube; ; anterior pituitary; ; superior frontal gyrus; ; canal of the cervix; ; myometrium; ; left uterine tube; ; endometrium; ; nucleus accumbens; ; right coronary artery;
	Top expressed in
	superior frontal gyrus; ; ascending aorta; ; aortic valve; ; spermatid; ; cerebellar cortex; ; spermatocyte; ; lens; ; lip; ; supraoptic nucleus; ; esophagus;
	More reference expression data
	n/a
Gene ontology
Molecular function	GTPase activator activity; SH3 domain binding;
Cellular component	cytoplasm; cytosol; membrane; intrinsic component of the cytoplasmic side of the plasma membrane; dendritic shaft; postsynaptic density; plasma membrane; glutamatergic synapse;
Biological process	pattern specification process; visual learning; negative regulation of neuron apoptotic process; regulation of long-term neuronal synaptic plasticity; regulation of MAPK cascade; regulation of GTPase activity; dendrite development; receptor clustering; MAPK cascade; regulation of synaptic plasticity; positive regulation of GTPase activity; negative regulation of axonogenesis; regulation of synapse structure or activity; signal transduction; Ras protein signal transduction; negative regulation of Ras protein signal transduction; maintenance of postsynaptic specialization structure;
	Sources:Amigo / QuickGO
Orthologs
	8831
	240057
	ENSG00000227460; ENSG00000197283
	ENSMUSG00000067629
	Q96PV0
	F6SEU4
	NM_006772; NM_001130066
	NM_001281491
	NP_001123538; NP_006763
	NP_001268420; NP_001357962; NP_001357963; NP_001380956
	Wikidata
View/Edit Human	View/Edit Mouse

Synaptic Ras GTPase-activating protein 1, also known as synaptic Ras-GAP 1 or SYNGAP1, is a protein that in humans is encoded by the SYNGAP1 gene.^[5]^[6]^[7] SYNGAP1 is a ras GTPase-activating protein that is critical for the development of cognition and proper synapse function. Mutations in humans can cause intellectual disability, epilepsy, autism and sensory processing deficits.

^ ^a ^b ^c ENSG00000197283 GRCh38: Ensembl release 89: ENSG00000227460, ENSG00000197283 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000067629 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: SYNGAP1 synaptic Ras GTPase activating protein 1 homolog (rat)".
^ Kim JH, Liao D, Lau LF, Huganir RL (April 1998). "SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family". Neuron. 20 (4): 683–91. doi:10.1016/S0896-6273(00)81008-9. PMID 9581761. S2CID 12247592.
^ Chen HJ, Rojas-Soto M, Oguni A, Kennedy MB (May 1998). "A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II". Neuron. 20 (5): 895–904. doi:10.1016/S0896-6273(00)80471-7. PMID 9620694. S2CID 14655729.

[refGRCh38Ensembl-1] ENSG00000197283 GRCh38: Ensembl release 89: ENSG00000227460, ENSG00000197283 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000067629 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: SYNGAP1 synaptic Ras GTPase activating protein 1 homolog (rat)".

[pmid9581761-6] Kim JH, Liao D, Lau LF, Huganir RL (April 1998). "SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family". Neuron. 20 (4): 683–91. doi:10.1016/S0896-6273(00)81008-9. PMID 9581761. S2CID 12247592.

[pmid9620694-7] Chen HJ, Rojas-Soto M, Oguni A, Kennedy MB (May 1998). "A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II". Neuron. 20 (5): 895–904. doi:10.1016/S0896-6273(00)80471-7. PMID 9620694. S2CID 14655729.

SYNGAP1 information

and 9 Related for: SYNGAP1 information

SYNGAP1

RASopathy

Autism

Epilepsy

Pleckstrin homology domain

ULK1

CHD2

DLG3

C2 domain