• Gene id: 8224

Gene Summary

• Gene Symbol: SYN3   Gene   UCSC   Ensembl
• Gene name: synapsin III
• Alternate names: synapsin-3, cN28H9.2 (synapsin III),
• Gene location: 22q12.3 (33058380: 32507819)     Exons: 20     NC_000022.11
• 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: 603032

Protein Summary

• Protein general information: O14994  
  • Name: Synapsin 3 (Synapsin III)
  • Length: 580  
  • Mass: 63303
  • Tissue specificity: Neuron specific. Detected predominantly in brain.
• Sequence:

  MNFLRRRLSDSSFMANLPNGYMTDLQRPDSSTSSPASPAMERRHPQPLAASFSSPGSSLFSSLSSAMKQAPQATS
  GLMEPPGPSTPIVQRPRILLVIDDAHTDWSKYFHGKKVNGEIEIRVEQAEFSELNLAAYVTGGCMVDMQVVRNGT
  KVVSRSFKPDFILVRQHAYSMALGEDYRSLVIGLQYGGLPAVNSLYSVYNFCSKPWVFSQLIKIFHSLGPEKFPL
  VEQTFFPNHKPMVTAPHFPVVVKLGHAHAGMGKIKVENQLDFQDITSVVAMAKTYATTEAFIDSKYDIRIQKIGS
  NYKAYMRTSISGNWKANTGSAMLEQVAMTERYRLWVDSCSEMFGGLDICAVKAVHSKDGRDYIIEVMDSSMPLIG
  EHVEEDRQLMADLVVSKMSQLPMPGGTAPSPLRPWAPQIKSAKSPGQAQLGPQLGQPQPRPPPQGGPRQAQSPQP
  QRSGSPSQQRLSPQGQQPLSPQSGSPQQQRSPGSPQLSRASSGSSPNQASKPGATLASQPRPPVQGRSTSQQGEE
  SKKPAPPHPHLNKSQSLTNSLSTSDTSQRGTPSEDEAKAETIRNLRKSFASLFSD

• Structural information:
  • Interpro: IPR013815  IPR016185  IPR028712  IPR001359  IPR020898   IPR019735  IPR019736  IPR020897  
  • Prosite: PS00415 PS00416
  • PDB: 2P0A
  • PDBsum: 2P0A
  • STRING: ENSP00000351614
• Other Databases: GeneCards:  SYN3  Malacards:  SYN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005524	ATP binding	TAS	molecular function
GO:0032228	regulation of synaptic transmission, GABAergic	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:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0099504	synaptic vesicle cycle	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0097091	synaptic vesicle clustering	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray