Gene/Proteome Database (LMPD)
LMPD ID
LMP006792
Gene ID
Species
Homo sapiens (Human)
Gene Name
synaptophysin
Gene Symbol
Synonyms
MRX96; MRXSYP
Alternate Names
synaptophysin; major synaptic vesicle protein P38
Chromosome
X
Map Location
Xp11.23-p11.22
Summary
This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011]
Orthologs
Proteins
| synaptophysin | |
|---|---|
| Refseq ID | NP_003170 |
| Protein GI | 27764867 |
| UniProt ID | P08247 |
| mRNA ID | NM_003179 |
| Length | 313 |
| RefSeq Status | REVIEWED |
| MLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATCGSYSGELQLSVDCANKTESDLSIEVEFEYPFRLHQVYFDAPTCRGGTTKVFLVGDYSSSAEFFVTVAVFAFLYSMGALATYIFLQNKYRENNKGPMLDFLATAVFAFMWLVSSSAWAKGLSDVKMATDPENIIKEMPVCRQTGNTCKELRDPVTSGLNTSVVFGFLNLVLWVGNLWFVFKETGWAAPFLRAPPGAPEKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQPDYGQPAGSGGSGYGPQGDYGQQGYGPQGAPTSFSNQM | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0030054 | IEA:UniProtKB-KW | C | cell junction |
| GO:0060076 | IEA:Ensembl | C | excitatory synapse |
| GO:0030285 | NAS:UniProtKB | C | integral component of synaptic vesicle membrane |
| GO:0043005 | ISS:ParkinsonsUK-UCL | C | neuron projection |
| GO:0044306 | IEA:Ensembl | C | neuron projection terminus |
| GO:0048786 | IEA:Ensembl | C | presynaptic active zone |
| GO:0042734 | IEA:Ensembl | C | presynaptic membrane |
| GO:0043234 | IEA:Ensembl | C | protein complex |
| GO:0008021 | ISS:ParkinsonsUK-UCL | C | synaptic vesicle |
| GO:0015485 | IDA:UniProtKB | F | cholesterol binding |
| GO:0043621 | TAS:ParkinsonsUK-UCL | F | protein self-association |
| GO:0005215 | IEA:InterPro | F | transporter activity |
| GO:0071310 | IEA:Ensembl | P | cellular response to organic substance |
| GO:0006897 | ISS:UniProtKB | P | endocytosis |
| GO:0048169 | ISS:UniProtKB | P | regulation of long-term neuronal synaptic plasticity |
| GO:0048168 | IBA:RefGenome | P | regulation of neuronal synaptic plasticity |
| GO:2000474 | ISS:UniProtKB | P | regulation of opioid receptor signaling pathway |
| GO:0048172 | ISS:UniProtKB | P | regulation of short-term neuronal synaptic plasticity |
| GO:0016188 | NAS:UniProtKB | P | synaptic vesicle maturation |
| GO:0048499 | NAS:UniProtKB | P | synaptic vesicle membrane organization |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08247-1; Sequence=Displayed; Name=2; IsoId=P08247-2; Sequence=VSP_056897; Note=No experimental confirmation available; |
| Disease | Mental retardation, X-linked, SYP-related (MRXSYP) [MIM |
| Domain | The calcium-binding activity is thought to be localized in the cytoplasmic tail of the protein. |
| Function | Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity). |
| Ptm | Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation. |
| Similarity | Belongs to the synaptophysin/synaptobrevin family. |
| Similarity | Contains 1 MARVEL domain. {ECO |
| Subcellular Location | Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein. Cell junction, synapse, synaptosome. |
| Subunit | Homohexamer or homotetramer. Interacts with SRCIN1. |
| Tissue Specificity | Characteristic of a type of small (30-80 nm) neurosecretory vesicles, including presynaptic vesicles, but also vesicles of various neuroendocrine cells of both neuronal and epithelial phenotype. |
| Web Resource | Name=Wikipedia; Note=Synaptophysin entry; URL="http://en.wikipedia.org/wiki/Synaptophysin"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP006792 (as displayed in Record Overview)
Identical Sequences to LMP006792 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:27764867 | DBBJ | BAG35863.1 | 313 | unnamed protein product [Homo sapiens] |
| GI:27764867 | DBBJ | BAG73771.1 | 313 | synaptophysin, partial [synthetic construct] |
| GI:27764867 | GenBank | EAW50685.1 | 313 | synaptophysin, isoform CRA_b [Homo sapiens] |
| GI:27764867 | GenBank | ADT51269.1 | 313 | Sequence 3286 from patent US 7842467 |
| GI:27764867 | GenBank | ADT51270.1 | 313 | Sequence 3287 from patent US 7842467 |
| GI:27764867 | GenBank | AHE00866.1 | 313 | Sequence 53823 from patent US 8586006 |
Related Sequences to LMP006792 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:27764867 | RefSeq | NP_001181258.1 | 313 | synaptophysin [Macaca mulatta] |
| GI:27764867 | RefSeq | XP_003276897.1 | 313 | PREDICTED: synaptophysin [Nomascus leucogenys] |
| GI:27764867 | RefSeq | XP_003807301.1 | 313 | PREDICTED: synaptophysin [Pan paniscus] |
| GI:27764867 | RefSeq | XP_003917749.1 | 313 | PREDICTED: synaptophysin [Papio anubis] |
| GI:27764867 | RefSeq | XP_005593601.1 | 313 | PREDICTED: synaptophysin [Macaca fascicularis] |
| GI:27764867 | RefSeq | XP_010360911.1 | 313 | PREDICTED: synaptophysin [Rhinopithecus roxellana] |