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SYNGAP1

GENERAL INFORMATION

Gene name

 SYNGAP1

Gene description

 Synaptic Ras GTPase activating protein 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins
RAS pathway related proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Cell line enhanced (AF22)
HPA (normal tissue):Mixed

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Expression in neuronal processes.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Reliability score

 Uncertain based on 2 antibodies.
HPA038373 , HPA038374
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (unfavourable) and head and neck cancer (favourable).
Renal cancer p<0.001
Head and neck cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer

STAINING SUMMARY
HPA038373
HPA038374

GENE INFORMATION

Gene name

 SYNGAP1 (HGNC Symbol)

Synonyms

 KIAA1938, RASA5, SYNGAP

Description

 Synaptic Ras GTPase activating protein 1 (HGNC Symbol)

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]

Chromosome

 6

Cytoband

 p21.32

Chromosome location (bp)

 33420070 - 33457541

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000197283 (version 83.38)

Entrez gene

 8831

UniProt

 Q96PV0 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96PV0

Antibodypedia

 SYNGAP1 antibodies

PROTEIN BROWSER
SYNGAP1-001
SYNGAP1-003
SYNGAP1-007
SYNGAP1-009
SYNGAP1-010

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SYNGAP1-001
ENSP00000486463
ENST00000629380
Q96PV0 [Direct mapping]
Ras/Rap GTPase-activating protein SynGAP
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
RAS pathway related proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007389 [pattern specification process]
GO:0007411 [axon guidance]
GO:0008286 [insulin receptor signaling pathway]
GO:0008542 [visual learning]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0014069 [postsynaptic density]
GO:0016020 [membrane]
GO:0016358 [dendrite development]
GO:0017124 [SH3 domain binding]
GO:0019901 [protein kinase binding]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0043087 [regulation of GTPase activity]
GO:0043113 [receptor clustering]
GO:0043198 [dendritic shaft]
GO:0043408 [regulation of MAPK cascade]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
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 or activity]
GO:0097481 [neuronal postsynaptic density]
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 1343 aa
148.3 kDa 		No 0
SYNGAP1-003
ENSP00000412475
ENST00000428982
Q96PV0 [Direct mapping]
Ras/Rap GTPase-activating protein SynGAP
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
RAS pathway related proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007411 [axon guidance]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0017124 [SH3 domain binding]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048167 [regulation of synaptic plasticity]
Show all
 1284 aa
140.9 kDa 		No 0
SYNGAP1-007
ENSP00000486431
ENST00000628646
Q96PV0 [Direct mapping]
Ras/Rap GTPase-activating protein SynGAP
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
RAS pathway related proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007411 [axon guidance]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0017124 [SH3 domain binding]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048167 [regulation of synaptic plasticity]
Show all
 1299 aa
143.6 kDa 		No 0
SYNGAP1-009
ENSP00000416519
ENST00000449372
B7ZCA0 [Direct mapping]
Ras/Rap GTPase-activating protein SynGAP
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
RAS pathway related proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0007165 [signal transduction]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0046580 [negative regulation of Ras protein signal transduction]
Show all
 1307 aa
144.3 kDa 		No 0
SYNGAP1-010
ENSP00000403636
ENST00000418600
Q96PV0 [Direct mapping]
Ras/Rap GTPase-activating protein SynGAP
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
RAS pathway related proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007165 [signal transduction]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007411 [axon guidance]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0017124 [SH3 domain binding]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0043087 [regulation of GTPase activity]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0046580 [negative regulation of Ras protein signal transduction]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048167 [regulation of synaptic plasticity]
Show all
 1285 aa
141.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.