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Gene id

6855

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (49200201: 49187811) 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 compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011]

OMIM

313475

Protein Summary

Protein general information

P08247

Name: Synaptophysin (Major synaptic vesicle protein p38)

Length: 313 Mass: 33,845

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.

Sequence

MLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATCGSYSGELQLSVDCANKTESDLSIEVEFEYPF
RLHQVYFDAPTCRGGTTKVFLVGDYSSSAEFFVTVAVFAFLYSMGALATYIFLQNKYRENNKGPMLDFLATAVFA
FMWLVSSSAWAKGLSDVKMATDPENIIKEMPVCRQTGNTCKELRDPVTSGLNTSVVFGFLNLVLWVGNLWFVFKE
TGWAAPFLRAPPGAPEKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQPDYGQPAGSGGSGYGPQGDYGQQGY
GPQGAPTSFSNQM

Structural information

Protein Domains	MARVEL. (21-227)
Interpro:	IPR008253 IPR001285 IPR028714
Prosite:	PS51225 PS00604
Pfam:	PF01284
STRING:	ENSP00000263233;

Other Databases

GeneCards: SYP; Malacards: SYP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005215	transporter activity	IEA	molecular_function
GO:0006897	endocytosis	ISS	biological_process
GO:0008021	synaptic vesicle	ISS	cellular_component
GO:0015485	cholesterol binding	IDA	molecular_function
GO:0016188	synaptic vesicle maturati on	NAS	biological_process
GO:0030054	cell junction	IEA	cellular_component
GO:0030285	integral component of syn aptic vesicle membrane	IBA	cellular_component
GO:0030285	integral component of syn aptic vesicle membrane	NAS	cellular_component
GO:0030672	synaptic vesicle membrane	IEA	cellular_component
GO:0042169	SH2 domain binding	IEA	molecular_function
GO:0042734	presynaptic membrane	IEA	cellular_component
GO:0042802	identical protein binding	IEA	molecular_function
GO:0043005	neuron projection	ISS	cellular_component
GO:0043195	terminal bouton	IEA	cellular_component
GO:0043621	protein self-association	TAS	molecular_function
GO:0048168	regulation of neuronal sy naptic plasticity	IBA	biological_process
GO:0048169	regulation of long-term n euronal synaptic plastici ty	ISS	biological_process
GO:0048172	regulation of short-term neuronal synaptic plastic ity	ISS	biological_process
GO:0048499	synaptic vesicle membrane organization	NAS	biological_process
GO:0048786	presynaptic active zone	IEA	cellular_component
GO:0060076	excitatory synapse	IEA	cellular_component
GO:0071310	cellular response to orga nic substance	IEA	biological_process
GO:2000474	regulation of opioid rece ptor signaling pathway	ISS	biological_process
GO:0005215	transporter activity	IEA	molecular_function
GO:0006810	transport	IEA	biological_process
GO:0006897	endocytosis	ISS	biological_process
GO:0008021	synaptic vesicle	IEA	cellular_component
GO:0008021	synaptic vesicle	IEA	cellular_component
GO:0008021	synaptic vesicle	ISS	cellular_component
GO:0015485	cholesterol binding	IDA	molecular_function
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016188	synaptic vesicle maturati on	NAS	biological_process
GO:0030054	cell junction	IEA	cellular_component
GO:0030285	integral component of syn aptic vesicle membrane	IBA	cellular_component
GO:0030285	integral component of syn aptic vesicle membrane	NAS	cellular_component
GO:0030672	synaptic vesicle membrane	IEA	cellular_component
GO:0030672	synaptic vesicle membrane	IEA	cellular_component
GO:0031410	cytoplasmic vesicle	IEA	cellular_component
GO:0042169	SH2 domain binding	IEA	molecular_function
GO:0042734	presynaptic membrane	IEA	cellular_component
GO:0042802	identical protein binding	IEA	molecular_function
GO:0043005	neuron projection	IEA	cellular_component
GO:0043005	neuron projection	ISS	cellular_component
GO:0043005	neuron projection	IEA	cellular_component
GO:0043005	neuron projection	IEA	cellular_component
GO:0043195	terminal bouton	IEA	cellular_component
GO:0043621	protein self-association	TAS	molecular_function
GO:0044306	neuron projection terminu s	IEA	cellular_component
GO:0045202	synapse	IEA	cellular_component
GO:0045202	synapse	IEA	cellular_component
GO:0048168	regulation of neuronal sy naptic plasticity	IEA	biological_process
GO:0048168	regulation of neuronal sy naptic plasticity	IBA	biological_process
GO:0048169	regulation of long-term n euronal synaptic plastici ty	IEA	biological_process
GO:0048169	regulation of long-term n euronal synaptic plastici ty	ISS	biological_process
GO:0048172	regulation of short-term neuronal synaptic plastic ity	IEA	biological_process
GO:0048172	regulation of short-term neuronal synaptic plastic ity	ISS	biological_process
GO:0048499	synaptic vesicle membrane organization	NAS	biological_process
GO:0048786	presynaptic active zone	IEA	cellular_component
GO:0060076	excitatory synapse	IEA	cellular_component
GO:0071310	cellular response to orga nic substance	IEA	biological_process
GO:2000474	regulation of opioid rece ptor signaling pathway	ISS	biological_process
GO:0006897	endocytosis	ISS	biological_process
GO:0008021	synaptic vesicle	ISS	cellular_component
GO:0015485	cholesterol binding	IDA	molecular_function
GO:0016188	synaptic vesicle maturati on	NAS	biological_process
GO:0030285	integral component of syn aptic vesicle membrane	IBA	cellular_component
GO:0030285	integral component of syn aptic vesicle membrane	NAS	cellular_component
GO:0043005	neuron projection	ISS	cellular_component
GO:0043621	protein self-association	TAS	molecular_function
GO:0048168	regulation of neuronal sy naptic plasticity	IBA	biological_process
GO:0048169	regulation of long-term n euronal synaptic plastici ty	ISS	biological_process
GO:0048172	regulation of short-term neuronal synaptic plastic ity	ISS	biological_process
GO:0048499	synaptic vesicle membrane organization	NAS	biological_process
GO:2000474	regulation of opioid rece ptor signaling pathway	ISS	biological_process

Diseases

Associated diseases	References
Attention-deficit hyperactivity disorder (ADHD)	PMID: 16082702
Endometriosis	PMID: 26604067
Mental retardation	KEGG: H00577, OMIM: 313475
Endometriosis	INFBASE26604067

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26604067	Endometrio sis			70 (30 healthy controls, 40 wo men with endome triosis)		NGF MAP-2 and SYP	Show abstract