Homo Sapiens
SYNGAP1 - Synaptic Ras GTPase Activating Protein 1
Alias:
MRD5
RASA1
RASA5
SYNGAP
Basic Information
Sequence Homology
Disease & Mutation
Transcripts & Proteins
Gene Expression
Protein Interaction
Related Models
Drugs
References
This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Models
Reference
19
19
35523 bp
148.28
2686
6
13
11
SYNGAP1 Genetics information (+)
GRCh38
Chr : -
Sequence Homology
Selected Gene:
Human:SYNGAP1
Disease & Mutation
#
Disease
Anatomical category
Score
Count
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Expression
Alphabetical
Cell-specific RNA expression
Organ
Expression
Alphabetical
Protein Interaction
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Models
Type
Name
MGI
Strain of Origin
Publications
No data available
Drugs
Name
CAS Number
Status
Phase
Link
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
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Variant
Sequence
Comparison
Al agent
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