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Entry version 163 (16 Oct 2019)
Sequence version 4 (26 Jun 2007)
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Protein

Ras/Rap GTPase-activating protein SynGAP

Gene

SYNGAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity

Caution

It is uncertain whether Met-1 or Met-16 is the initiator methionine.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-6802949 Signaling by RAS mutants

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ras/Rap GTPase-activating protein SynGAP
Alternative name(s):
Neuronal RasGAP
Synaptic Ras GTPase-activating protein 1
Short name:
Synaptic Ras-GAP 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SYNGAP1
Synonyms:KIAA1938
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11497 SYNGAP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603384 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96PV0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal dominant 5 (MRD5)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_078616143 – 1343Missing in MRD5; associated with autistic spectrum disorder and epileptic encephalopathy; unknown pathological significance. 1 PublicationAdd BLAST1201
Natural variantiVAR_078617267 – 1343Missing in MRD5; associated with autistic spectrum disorder and epileptic encephalopathy. 1 PublicationAdd BLAST1077
Natural variantiVAR_069232362W → R in MRD5; the disease phenotype consists of intellectual disability, autism and epilepsy; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 Publication1
Natural variantiVAR_069233562P → L in MRD5; the disease phenotype consists of intellectual disability and autism; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 PublicationCorresponds to variant dbSNP:rs397514670EnsemblClinVar.1
Natural variantiVAR_078618701 – 1343Missing in MRD5; moderate; associated with autistic spectrum disorder and epileptic encephalopathy. 1 PublicationAdd BLAST643

Keywords - Diseasei

Autism, Autism spectrum disorder, Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
8831

MalaCards human disease database

More...
MalaCardsi
SYNGAP1
MIMi612621 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197283

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
178469 Autosomal dominant non-syndromic intellectual disability
442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36279

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96PV0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SYNGAP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
150421676

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000566541 – 1343Ras/Rap GTPase-activating protein SynGAPAdd BLAST1343

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei34PhosphotyrosineBy similarity1
Modified residuei39PhosphotyrosineBy similarity1
Modified residuei117PhosphoserineBy similarity1
Modified residuei371PhosphoserineBy similarity1
Modified residuei379PhosphoserineBy similarity1
Modified residuei385Phosphoserine; by PLK2By similarity1
Modified residuei449Phosphoserine; by PLK2By similarity1
Modified residuei466Phosphoserine; by PLK2By similarity1
Modified residuei752PhosphoserineBy similarity1
Modified residuei766PhosphoserineBy similarity1
Modified residuei780PhosphoserineBy similarity1
Modified residuei823PhosphoserineBy similarity1
Modified residuei825PhosphoserineBy similarity1
Modified residuei828PhosphothreonineBy similarity1
Modified residuei836Phosphoserine; by PLK2By similarity1
Modified residuei840Phosphoserine; by PLK2By similarity1
Modified residuei842Phosphoserine; by PLK2By similarity1
Modified residuei876PhosphoserineBy similarity1
Modified residuei892PhosphoserineBy similarity1
Modified residuei895Phosphoserine; by PLK2By similarity1
Modified residuei898PhosphoserineBy similarity1
Modified residuei985PhosphoserineBy similarity1
Modified residuei1114PhosphoserineBy similarity1
Modified residuei1118PhosphoserineBy similarity1
Modified residuei1121PhosphoserineBy similarity1
Modified residuei1165PhosphoserineBy similarity1
Modified residuei1204PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by CaM-kinase II. Dephosphorylated upon NMDA receptor activation or SYNGAP1/MPDZ complex disruption. Phosphorylation by PLK2 promotes its activity (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96PV0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96PV0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96PV0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96PV0

PeptideAtlas

More...
PeptideAtlasi
Q96PV0

PRoteomics IDEntifications database

More...
PRIDEi
Q96PV0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77769 [Q96PV0-1]
77770 [Q96PV0-2]
77771 [Q96PV0-3]
77772 [Q96PV0-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96PV0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96PV0

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96PV0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197283 Expressed in 165 organ(s), highest expression level in adenohypophysis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96PV0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96PV0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038373

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts KLHL17, CAMK2A and CAMK2B (By similarity). Interacts with MPDZ.

By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114358, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q96PV0, 24 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000403636

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q96PV0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini150 – 251PHPROSITE-ProRule annotationAdd BLAST102
Domaini249 – 347C2Add BLAST99
Domaini443 – 635Ras-GAPPROSITE-ProRule annotationAdd BLAST193

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi785 – 815SH3-bindingSequence analysisAdd BLAST31

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C2 domain is required for RapGAP activity.By similarity

Keywords - Domaini

SH3-binding

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3508 Eukaryota
ENOG410XPU1 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158438

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96PV0

KEGG Orthology (KO)

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KOi
K17631

Identification of Orthologs from Complete Genome Data

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OMAi
GWHGQMS

Database of Orthologous Groups

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OrthoDBi
69536at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96PV0

TreeFam database of animal gene trees

More...
TreeFami
TF105303

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13375 PH_SynGAP, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.150, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR021887 DUF3498
IPR001849 PH_domain
IPR039360 Ras_GTPase
IPR023152 RasGAP_CS
IPR001936 RasGAP_dom
IPR008936 Rho_GTPase_activation_prot
IPR037779 SynGAP_PH

The PANTHER Classification System

More...
PANTHERi
PTHR10194 PTHR10194, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168 C2, 1 hit
PF12004 DUF3498, 1 hit
PF00616 RasGAP, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239 C2, 1 hit
SM00233 PH, 1 hit
SM00323 RasGAP, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48350 SSF48350, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS00509 RAS_GTPASE_ACTIV_1, 1 hit
PS50018 RAS_GTPASE_ACTIV_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96PV0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI
60 70 80 90 100
ISGNQLLMLD EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY
110 120 130 140 150
HLGRSRRKSV PGGKQYSMEG APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL
160 170 180 190 200
DRTSSFRQIL PRFRSADHDR ARLMQSFKES HSHESLLSPS SAAEALELNL
210 220 230 240 250
DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD KWIENLQRAV
260 270 280 290 300
KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS
310 320 330 340 350
ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV
360 370 380 390 400
ATLAGRHFTE QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV
410 420 430 440 450
RLKARYQTMS ILPMELYKEF AEYVTNHYRM LCAVLEPALN VKGKEEVASA
460 470 480 490 500
LVHILQSTGK AKDFLSDMAM SEVDRFMERE HLIFRENTLA TKAIEEYMRL
510 520 530 540 550
IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ ANLRMCCELA
560 570 580 590 600
LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP
610 620 630 640 650
AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN
660 670 680 690 700
EFLELEWGSM QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL
710 720 730 740 750
PQLSKEALLK LGPLPRLLND ISTALRNPNI QRQPSRQSER PRPQPVVLRG
760 770 780 790 800
PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS MDMARLPSPT KEKPPPPPPG
810 820 830 840 850
GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS VSMLDLQGDG
860 870 880 890 900
PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT
910 920 930 940 950
AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG
960 970 980 990 1000
HGPPSSHHHH HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI
1010 1020 1030 1040 1050
LHSHSYSDEF GPSGTDFTRR QLSLQDNLQH MLSPPQITIG PQRPAPSGPG
1060 1070 1080 1090 1100
GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA AQKPRPSSGN LLQSPEPSYG
1110 1120 1130 1140 1150
PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT PSTLNPTMPA
1160 1170 1180 1190 1200
SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE
1210 1220 1230 1240 1250
EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ
1260 1270 1280 1290 1300
QQAEKDSQIK SIIGRLMLVE EELRRDHPAM AEPLPEPKKR LLDAQERQLP
1310 1320 1330 1340
PLGPTNPRVT LAPPWNGLAP PAPPPPPRLQ ITENGEFRNT ADH
Length:1,343
Mass (Da):148,284
Last modified:June 26, 2007 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD9ABE21054677AA0
GO
Isoform 2 (identifier: Q96PV0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1265-1343: RLMLVEEELR...NGEFRNTADH → SPSLQADAGGGGAAPGPPRHG

Show »
Length:1,285
Mass (Da):141,248
Checksum:iA9353354EF091FD6
GO
Isoform 3 (identifier: Q96PV0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: MSRSRASIHR...PVEGRPHGEH → MGLRPPTPSP...RRCSSCCFPG

Show »
Length:1,284
Mass (Da):140,929
Checksum:i73BCEF16133B6D77
GO
Isoform 4 (identifier: Q96PV0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1296-1343: ERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH → LLIR

Show »
Length:1,299
Mass (Da):143,569
Checksum:iAC4DC1FF002B7075
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MQZ2A0A0A0MQZ2_HUMAN
Ras/Rap GTPase-activating protein S...
SYNGAP1
1,284Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6T2A0A2R8Y6T2_HUMAN
Ras/Rap GTPase-activating protein S...
SYNGAP1
1,308Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDS2A0A2R8YDS2_HUMAN
Ras/Rap GTPase-activating protein S...
SYNGAP1
1,249Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZCA0B7ZCA0_HUMAN
Ras/Rap GTPase-activating protein S...
SYNGAP1
1,292Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GW70A0A1B0GW70_HUMAN
Ras/Rap GTPase-activating protein S...
SYNGAP1
592Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A140T8W4A0A140T8W4_HUMAN
Ras/Rap GTPase-activating protein S...
SYNGAP1
487Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GU28A0A1B0GU28_HUMAN
Ras/Rap GTPase-activating protein S...
SYNGAP1
25Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB67831 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078616143 – 1343Missing in MRD5; associated with autistic spectrum disorder and epileptic encephalopathy; unknown pathological significance. 1 PublicationAdd BLAST1201
Natural variantiVAR_078233170R → Q Probable disease-associated mutation found in a patient with drug-resistant generalized epilepsy, cognitive impairment and autism spectrum disorder. 1 PublicationCorresponds to variant dbSNP:rs1057519546EnsemblClinVar.1
Natural variantiVAR_078234195A → P Probable disease-associated mutation found in a patient with West syndrome. 1 PublicationCorresponds to variant dbSNP:rs1057519545EnsemblClinVar.1
Natural variantiVAR_065078201D → E1 PublicationCorresponds to variant dbSNP:rs768682743Ensembl.1
Natural variantiVAR_078617267 – 1343Missing in MRD5; associated with autistic spectrum disorder and epileptic encephalopathy. 1 PublicationAdd BLAST1077
Natural variantiVAR_069232362W → R in MRD5; the disease phenotype consists of intellectual disability, autism and epilepsy; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 Publication1
Natural variantiVAR_069233562P → L in MRD5; the disease phenotype consists of intellectual disability and autism; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. 1 PublicationCorresponds to variant dbSNP:rs397514670EnsemblClinVar.1
Natural variantiVAR_078618701 – 1343Missing in MRD5; moderate; associated with autistic spectrum disorder and epileptic encephalopathy. 1 PublicationAdd BLAST643
Natural variantiVAR_065079749R → Q1 Publication1
Natural variantiVAR_065080790T → N1 PublicationCorresponds to variant dbSNP:rs552867155Ensembl.1
Natural variantiVAR_065081991G → R1 PublicationCorresponds to variant dbSNP:rs145472959Ensembl.1
Natural variantiVAR_0650821115I → T2 PublicationsCorresponds to variant dbSNP:rs191549504EnsemblClinVar.1
Natural variantiVAR_0650831283P → L1 PublicationCorresponds to variant dbSNP:rs1396355432EnsemblClinVar.1
Natural variantiVAR_0650841310T → M1 PublicationCorresponds to variant dbSNP:rs796430835Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0263761 – 98MSRSR…PHGEH → MGLRPPTPSPSGGSCSGSLP PPSRCQPLRRRCSSCCFPG in isoform 3. CuratedAdd BLAST98
Alternative sequenceiVSP_0079731265 – 1343RLMLV…NTADH → SPSLQADAGGGGAAPGPPRH G in isoform 2. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_0263771296 – 1343ERQLP…NTADH → LLIR in isoform 4. CuratedAdd BLAST48

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB067525 mRNA Translation: BAB67831.2 Different initiation.
AL021366 Genomic DNA Translation: CAA16161.1
AL662799 Genomic DNA No translation available.
BX088650 Genomic DNA No translation available.
AL713634 mRNA Translation: CAD28452.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34434.2 [Q96PV0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001123538.1, NM_001130066.1
NP_006763.2, NM_006772.2 [Q96PV0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000395071; ENSP00000378509; ENSG00000227460 [Q96PV0-4]
ENST00000414753; ENSP00000407995; ENSG00000227460 [Q96PV0-3]
ENST00000418600; ENSP00000403636; ENSG00000197283 [Q96PV0-2]
ENST00000428982; ENSP00000412475; ENSG00000197283 [Q96PV0-3]
ENST00000455687; ENSP00000414259; ENSG00000227460 [Q96PV0-1]
ENST00000628646; ENSP00000486431; ENSG00000197283 [Q96PV0-4]
ENST00000629380; ENSP00000486463; ENSG00000197283 [Q96PV0-1]
ENST00000646630; ENSP00000496007; ENSG00000197283 [Q96PV0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8831

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8831

UCSC genome browser

More...
UCSCi
uc010juz.4 human [Q96PV0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Synaptic Ras GTPase activating protein 1 homolog (rat) (SYNGAP1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067525 mRNA Translation: BAB67831.2 Different initiation.
AL021366 Genomic DNA Translation: CAA16161.1
AL662799 Genomic DNA No translation available.
BX088650 Genomic DNA No translation available.
AL713634 mRNA Translation: CAD28452.1
CCDSiCCDS34434.2 [Q96PV0-1]
RefSeqiNP_001123538.1, NM_001130066.1
NP_006763.2, NM_006772.2 [Q96PV0-1]

3D structure databases

SMRiQ96PV0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi114358, 9 interactors
IntActiQ96PV0, 24 interactors
STRINGi9606.ENSP00000403636

PTM databases

iPTMnetiQ96PV0
PhosphoSitePlusiQ96PV0
SwissPalmiQ96PV0

Polymorphism and mutation databases

BioMutaiSYNGAP1
DMDMi150421676

Proteomic databases

jPOSTiQ96PV0
MassIVEiQ96PV0
MaxQBiQ96PV0
PaxDbiQ96PV0
PeptideAtlasiQ96PV0
PRIDEiQ96PV0
ProteomicsDBi77769 [Q96PV0-1]
77770 [Q96PV0-2]
77771 [Q96PV0-3]
77772 [Q96PV0-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
8831

Genome annotation databases

EnsembliENST00000395071; ENSP00000378509; ENSG00000227460 [Q96PV0-4]
ENST00000414753; ENSP00000407995; ENSG00000227460 [Q96PV0-3]
ENST00000418600; ENSP00000403636; ENSG00000197283 [Q96PV0-2]
ENST00000428982; ENSP00000412475; ENSG00000197283 [Q96PV0-3]
ENST00000455687; ENSP00000414259; ENSG00000227460 [Q96PV0-1]
ENST00000628646; ENSP00000486431; ENSG00000197283 [Q96PV0-4]
ENST00000629380; ENSP00000486463; ENSG00000197283 [Q96PV0-1]
ENST00000646630; ENSP00000496007; ENSG00000197283 [Q96PV0-1]
GeneIDi8831
KEGGihsa:8831
UCSCiuc010juz.4 human [Q96PV0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8831
DisGeNETi8831

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SYNGAP1
HGNCiHGNC:11497 SYNGAP1
HPAiHPA038373
MalaCardsiSYNGAP1
MIMi603384 gene
612621 phenotype
neXtProtiNX_Q96PV0
OpenTargetsiENSG00000197283
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA36279

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3508 Eukaryota
ENOG410XPU1 LUCA
GeneTreeiENSGT00940000158438
InParanoidiQ96PV0
KOiK17631
OMAiGWHGQMS
OrthoDBi69536at2759
PhylomeDBiQ96PV0
TreeFamiTF105303

Enzyme and pathway databases

ReactomeiR-HSA-5658442 Regulation of RAS by GAPs
R-HSA-6802949 Signaling by RAS mutants

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SYNGAP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
8831
PharosiQ96PV0

Protein Ontology

More...
PROi
PR:Q96PV0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197283 Expressed in 165 organ(s), highest expression level in adenohypophysis
ExpressionAtlasiQ96PV0 baseline and differential
GenevisibleiQ96PV0 HS

Family and domain databases

CDDicd13375 PH_SynGAP, 1 hit
Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR021887 DUF3498
IPR001849 PH_domain
IPR039360 Ras_GTPase
IPR023152 RasGAP_CS
IPR001936 RasGAP_dom
IPR008936 Rho_GTPase_activation_prot
IPR037779 SynGAP_PH
PANTHERiPTHR10194 PTHR10194, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF12004 DUF3498, 1 hit
PF00616 RasGAP, 2 hits
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00233 PH, 1 hit
SM00323 RasGAP, 1 hit
SUPFAMiSSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS00509 RAS_GTPASE_ACTIV_1, 1 hit
PS50018 RAS_GTPASE_ACTIV_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYGP1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96PV0
Secondary accession number(s): A2AB17
, A2BEL6, A2BEL7, A8MQC4, Q8TCS2, Q9UGE2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: June 26, 2007
Last modified: October 16, 2019
This is version 163 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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