• Gene id: 6853

Gene Summary

• Gene Symbol: SYN1   Gene   UCSC   Ensembl
• Aliases: MRX50, SYN1a, SYN1b, SYNI
• Gene name: synapsin I
• Alternate names: synapsin-1, brain protein 4.1, synapsin Ib,
• Gene location: Xp11.3-p11.23 (47619856: 47571900)     Exons: 13     NC_000023.11
• Gene summary(Entrez): This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptog
• OMIM: 313440

Protein Summary

• Protein general information: P17600  
  • Name: Synapsin 1 (Brain protein 4.1) (Synapsin I)
  • Length: 705  
  • Mass: 74111
• Sequence:

  MNYLRRRLSDSNFMANLPNGYMTDLQRPQPPPPPPGAHSPGATPGPGTATAERSSGVAPAASPAAPSPGSSGGGG
  FFSSLSNAVKQTTAAAAATFSEQVGGGSGGAGRGGAASRVLLVIDEPHTDWAKYFKGKKIHGEIDIKVEQAEFSD
  LNLVAHANGGFSVDMEVLRNGVKVVRSLKPDFVLIRQHAFSMARNGDYRSLVIGLQYAGIPSVNSLHSVYNFCDK
  PWVFAQMVRLHKKLGTEEFPLIDQTFYPNHKEMLSSTTYPVVVKMGHAHSGMGKVKVDNQHDFQDIASVVALTKT
  YATAEPFIDAKYDVRVQKIGQNYKAYMRTSVSGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEIFGGLDICAVEAL
  HGKDGRDHIIEVVGSSMPLIGDHQDEDKQLIVELVVNKMAQALPRQRQRDASPGRGSHGQTPSPGALPLGRQTSQ
  QPAGPPAQQRPPPQGGPPQPGPGPQRQGPPLQQRPPPQGQQHLSGLGPPAGSPLPQRLPSPTSAPQQPASQAAPP
  TQGQGRQSRPVAGGPGAPPAARPPASPSPQRQAGPPQATRQTSVSGPAPPKASGAPPGGQQRQGPPQKPPGPAGP
  TRQASQAGPVPRTGPPTTQQPRPSGPGPAGRPKPQLAQKPSQDVPPPATAAAGGPPHPQLNKSQSLTNAFNLPEP
  APPRPSLSQDEVKAETIRSLRKSFASLFSD

• Structural information:
  • Interpro: IPR013815  IPR016185  IPR028713  IPR001359  IPR020898   IPR019735  IPR019736  IPR020897  
  • Prosite: PS00415 PS00416
  • STRING: ENSP00000295987
• Other Databases: GeneCards:  SYN1  Malacards:  SYN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IDA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	NAS	biological process
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0019901	protein kinase binding	ISS	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0046928	regulation of neurotransmitter secretion	TAS	biological process
GO:0007269	neurotransmitter secretion	IBA	biological process
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005215	transporter activity	TAS	molecular function
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0099504	synaptic vesicle cycle	IEA	biological process
GO:0098693	regulation of synaptic vesicle cycle	IEA	biological process
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0098993	anchored component of synaptic vesicle membrane	IEA	cellular component
GO:0098850	extrinsic component of synaptic vesicle membrane	IEA	cellular component
GO:0050808	synapse organization	IEA	biological process
GO:0043229	intracellular organelle	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0097091	synaptic vesicle clustering	IEA	biological process
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0048666	neuron development	IEA	biological process
GO:0048306	calcium-dependent protein binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Symptomatic generalized epilepsies	KEGG:H00577
Symptomatic generalized epilepsies	KEGG:H00577
Major depressive disorder	PMID:22885997
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray