• Gene id: 6855

Gene Summary

• Gene Symbol: SYP   Gene   UCSC   Ensembl
• Aliases: MRX96, MRXSYP
• Gene name: synaptophysin
• Alternate names: synaptophysin, major synaptic vesicle protein P38,
• Gene location: Xp11.23 (49200192: 49187814)     Exons: 7     NC_000023.11
• Gene summary(Entrez): 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 compart
• OMIM: 313475

Protein Summary

• Protein general information: P08247  
  • Name: Synaptophysin (Major synaptic vesicle protein p38)
  • Length: 313  
  • Mass: 33845
  • Tissue specificity: Expressed in the brain, with expression in the hippocampus, the neuropil in the dentate gyrus, where expression is higher in the outer half of the molecular layer than in the inner half, and in the neuropil of CA4 and CA3. {ECO
• Sequence:

  MLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATCGSYSGELQLSVDCANKTESDLSIEVEFEYPF
  RLHQVYFDAPTCRGGTTKVFLVGDYSSSAEFFVTVAVFAFLYSMGALATYIFLQNKYRENNKGPMLDFLATAVFA
  FMWLVSSSAWAKGLSDVKMATDPENIIKEMPVCRQTGNTCKELRDPVTSGLNTSVVFGFLNLVLWVGNLWFVFKE
  TGWAAPFLRAPPGAPEKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQPDYGQPAGSGGSGYGPQGDYGQQGY
  GPQGAPTSFSNQM

• Structural information:
  • Protein Domains: (21..22-)
    (/note="MARVEL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00581"-)
  • Interpro: IPR008253  IPR001285  IPR028714  
  • Prosite: PS51225 PS00604
  • STRING: ENSP00000263233
• Other Databases: GeneCards:  SYP  Malacards:  SYP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043621	protein self-association	TAS	molecular function
GO:0008021	synaptic vesicle	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0017075	syntaxin-1 binding	IBA	molecular function
GO:0048168	regulation of neuronal synaptic plasticity	IBA	biological process
GO:2000474	regulation of opioid receptor signaling pathway	ISS	biological process
GO:0048172	regulation of short-term neuronal synaptic plasticity	ISS	biological process
GO:0048169	regulation of long-term neuronal synaptic plasticity	ISS	biological process
GO:0006897	endocytosis	ISS	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0048168	regulation of neuronal synaptic plasticity	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060076	excitatory synapse	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0048172	regulation of short-term neuronal synaptic plasticity	IEA	biological process
GO:0048169	regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0044306	neuron projection terminus	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0042169	SH2 domain binding	IEA	molecular function
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:0015485	cholesterol binding	IDA	molecular function
GO:0048499	synaptic vesicle membrane organization	NAS	biological process
GO:0030285	integral component of synaptic vesicle membrane	NAS	cellular component
GO:0016188	synaptic vesicle maturation	NAS	biological process

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Alzheimer's disease	PMID:20847448
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881