Q7L0J3 · SV2A_HUMAN
- ProteinSynaptic vesicle glycoprotein 2A
- GeneSV2A
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids742 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity).
(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119).
Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1
Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1
Miscellaneous
Identified as the brain binding-site for the antiepileptic drug levetiracetam/lev.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cell-cell junction | |
Cellular Component | dendrite | |
Cellular Component | endoplasmic reticulum | |
Cellular Component | GABA-ergic synapse | |
Cellular Component | glutamatergic synapse | |
Cellular Component | neuromuscular junction | |
Cellular Component | neuron projection | |
Cellular Component | neuronal cell body | |
Cellular Component | plasma membrane | |
Cellular Component | presynaptic active zone | |
Cellular Component | synaptic vesicle | |
Cellular Component | synaptic vesicle membrane | |
Molecular Function | protein kinase binding | |
Molecular Function | transmembrane transporter activity | |
Biological Process | intracellular calcium ion homeostasis | |
Biological Process | regulation of gamma-aminobutyric acid secretion | |
Biological Process | synaptic vesicle priming |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameSynaptic vesicle glycoprotein 2A
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ7L0J3
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Multi-pass membrane protein
Note: Enriched in chromaffin granules, not present in adrenal microsomes. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas (By similarity).
Colocalizes with ATP2B1 at photoreceptor synaptic terminals
Colocalizes with ATP2B1 at photoreceptor synaptic terminals
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-169 | Cytoplasmic | ||||
Sequence: MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRRSYSRFEEEDDDDDFPAPSDGYYRGEGTQDEEEGGASSDATEGHDEDDEIYEGEYQGIPRAESGGKGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKEREELAQQYEAILRECGHGRFQWTLY | ||||||
Transmembrane | 170-190 | Helical | ||||
Sequence: FVLGLALMADGVEVFVVGFVL | ||||||
Topological domain | 191-205 | Extracellular | ||||
Sequence: PSAEKDMCLSDSNKG | ||||||
Transmembrane | 206-226 | Helical | ||||
Sequence: MLGLIVYLGMMVGAFLWGGLA | ||||||
Topological domain | 227-233 | Cytoplasmic | ||||
Sequence: DRLGRRQ | ||||||
Transmembrane | 234-254 | Helical | ||||
Sequence: CLLISLSVNSVFAFFSSFVQG | ||||||
Topological domain | 255-262 | Extracellular | ||||
Sequence: YGTFLFCR | ||||||
Transmembrane | 263-283 | Helical | ||||
Sequence: LLSGVGIGGSIPIVFSYFSEF | ||||||
Topological domain | 284-294 | Cytoplasmic | ||||
Sequence: LAQEKRGEHLS | ||||||
Transmembrane | 295-315 | Helical | ||||
Sequence: WLCMFWMIGGVYAAAMAWAII | ||||||
Topological domain | 316-334 | Extracellular | ||||
Sequence: PHYGWSFQMGSAYQFHSWR | ||||||
Transmembrane | 335-355 | Helical | ||||
Sequence: VFVLVCAFPSVFAIGALTTQP | ||||||
Topological domain | 356-447 | Cytoplasmic | ||||
Sequence: ESPRFFLENGKHDEAWMVLKQVHDTNMRAKGHPERVFSVTHIKTIHQEDELIEIQSDTGTWYQRWGVRALSLGGQVWGNFLSCFGPEYRRIT | ||||||
Transmembrane | 448-468 | Helical | ||||
Sequence: LMMMGVWFTMSFSYYGLTVWF | ||||||
Topological domain | 469-598 | Extracellular | ||||
Sequence: PDMIRHLQAVDYASRTKVFPGERVEHVTFNFTLENQIHRGGQYFNDKFIGLRLKSVSFEDSLFEECYFEDVTSSNTFFRNCTFINTVFYNTDLFEYKFVNSRLINSTFLHNKEGCPLDVTGTGEGAYMVY | ||||||
Transmembrane | 599-619 | Helical | ||||
Sequence: FVSFLGTLAVLPGNIVSALLM | ||||||
Topological domain | 620-626 | Cytoplasmic | ||||
Sequence: DKIGRLR | ||||||
Transmembrane | 627-647 | Helical | ||||
Sequence: MLAGSSVMSCVSCFFLSFGNS | ||||||
Topological domain | 648-651 | Extracellular | ||||
Sequence: ESAM | ||||||
Transmembrane | 652-672 | Helical | ||||
Sequence: IALLCLFGGVSIASWNALDVL | ||||||
Topological domain | 673-685 | Cytoplasmic | ||||
Sequence: TVELYPSDKRTTA | ||||||
Transmembrane | 686-708 | Helical | ||||
Sequence: FGFLNALCKLAAVLGISIFTSFV | ||||||
Topological domain | 709-712 | Extracellular | ||||
Sequence: GITK | ||||||
Transmembrane | 713-731 | Helical | ||||
Sequence: AAPILFASAALALGSSLAL | ||||||
Topological domain | 732-742 | Cytoplasmic | ||||
Sequence: KLPETRGQVLQ |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Developmental and epileptic encephalopathy 113 (DEE113)
- Note
- DescriptionA form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE113 is an autosomal recessive form characterized by severe early-onset recurrent epilepsy.
- See alsoMIM:620772
Natural variants in DEE113
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_089450 | 289-742 | missing | in DEE113; likely pathogenic | |
VAR_089451 | 383 | R>Q | in DEE113; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_089450 | 289-742 | in DEE113; likely pathogenic | |||
Sequence: Missing | ||||||
Natural variant | VAR_089451 | 383 | in DEE113; uncertain significance | |||
Sequence: R → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 743 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data), glycosylation.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000239764 | 1-742 | UniProt | Synaptic vesicle glycoprotein 2A | |||
Sequence: MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRRSYSRFEEEDDDDDFPAPSDGYYRGEGTQDEEEGGASSDATEGHDEDDEIYEGEYQGIPRAESGGKGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKEREELAQQYEAILRECGHGRFQWTLYFVLGLALMADGVEVFVVGFVLPSAEKDMCLSDSNKGMLGLIVYLGMMVGAFLWGGLADRLGRRQCLLISLSVNSVFAFFSSFVQGYGTFLFCRLLSGVGIGGSIPIVFSYFSEFLAQEKRGEHLSWLCMFWMIGGVYAAAMAWAIIPHYGWSFQMGSAYQFHSWRVFVLVCAFPSVFAIGALTTQPESPRFFLENGKHDEAWMVLKQVHDTNMRAKGHPERVFSVTHIKTIHQEDELIEIQSDTGTWYQRWGVRALSLGGQVWGNFLSCFGPEYRRITLMMMGVWFTMSFSYYGLTVWFPDMIRHLQAVDYASRTKVFPGERVEHVTFNFTLENQIHRGGQYFNDKFIGLRLKSVSFEDSLFEECYFEDVTSSNTFFRNCTFINTVFYNTDLFEYKFVNSRLINSTFLHNKEGCPLDVTGTGEGAYMVYFVSFLGTLAVLPGNIVSALLMDKIGRLRMLAGSSVMSCVSCFFLSFGNSESAMIALLCLFGGVSIASWNALDVLTVELYPSDKRTTAFGFLNALCKLAAVLGISIFTSFVGITKAAPILFASAALALGSSLALKLPETRGQVLQ | |||||||
Modified residue | 80 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 81 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 84 | UniProt | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 127 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 127 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 393 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 480 | UniProt | Phosphotyrosine | ||||
Sequence: Y | |||||||
Glycosylation | 498 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 548 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 573 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Post-translational modification
Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1.
N-glycosylated.
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Interacts with SYT1/synaptotagmin-1 in a calcium-dependent manner. Binds the adapter protein complex AP-2 (By similarity).
(Microbial infection) Interacts with C.botulinum neurotoxin type A2 (BoNT/A, botA) (PubMed:29649119).
Interaction is improved by glycosylation of SV2 (PubMed:29649119).
Interaction is improved by glycosylation of SV2 (PubMed:29649119).
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-57 | Interaction with SYT1 | ||||
Sequence: MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRRSYSRFEEEDDDDD | ||||||
Compositional bias | 33-50 | Basic and acidic residues | ||||
Sequence: GLDRVQDEYSRRSYSRFE | ||||||
Region | 33-144 | Disordered | ||||
Sequence: GLDRVQDEYSRRSYSRFEEEDDDDDFPAPSDGYYRGEGTQDEEEGGASSDATEGHDEDDEIYEGEYQGIPRAESGGKGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKE | ||||||
Compositional bias | 68-84 | Basic and acidic residues | ||||
Sequence: GEGTQDEEEGGASSDAT |
Sequence similarities
Belongs to the major facilitator superfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q7L0J3-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length742
- Mass (Da)82,695
- Last updated2004-07-05 v1
- Checksum913E216D5CFC2FB2
Q7L0J3-2
- Name2
- Differences from canonical
- 683-742: Missing
Sequence caution
Features
Showing features for compositional bias, sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 33-50 | Basic and acidic residues | ||||
Sequence: GLDRVQDEYSRRSYSRFE | ||||||
Compositional bias | 68-84 | Basic and acidic residues | ||||
Sequence: GEGTQDEEEGGASSDAT | ||||||
Sequence conflict | 100 | in Ref. 4; CAD97824 | ||||
Sequence: G → D | ||||||
Sequence conflict | 404 | in Ref. 3; BAC11645 | ||||
Sequence: D → G | ||||||
Sequence conflict | 493 | in Ref. 4; CAD97824 | ||||
Sequence: E → G | ||||||
Sequence conflict | 524 | in Ref. 3; BAC11645 | ||||
Sequence: V → A | ||||||
Sequence conflict | 544 | in Ref. 3; BAC11645 | ||||
Sequence: T → A | ||||||
Sequence conflict | 582 | in Ref. 3; BAC11645 | ||||
Sequence: G → D | ||||||
Sequence conflict | 611 | in Ref. 3; BAC11645 | ||||
Sequence: G → R | ||||||
Alternative sequence | VSP_019265 | 683-742 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB018279 EMBL· GenBank· DDBJ | BAA34456.2 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK075480 EMBL· GenBank· DDBJ | BAC11645.1 EMBL· GenBank· DDBJ | mRNA | ||
BX537754 EMBL· GenBank· DDBJ | CAD97824.1 EMBL· GenBank· DDBJ | mRNA | ||
AL591493 EMBL· GenBank· DDBJ | CAI12572.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AL591493 EMBL· GenBank· DDBJ | CAI12573.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
CH471121 EMBL· GenBank· DDBJ | EAW53596.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471121 EMBL· GenBank· DDBJ | EAW53598.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC000776 EMBL· GenBank· DDBJ | AAH00776.2 EMBL· GenBank· DDBJ | mRNA | ||
BC045111 EMBL· GenBank· DDBJ | AAH45111.1 EMBL· GenBank· DDBJ | mRNA |