• Gene id: 9145

Gene Summary

• Gene Symbol: SYNGR1   Gene   UCSC   Ensembl
• Gene name: synaptogyrin 1
• Alternate names: synaptogyrin-1,
• Gene location: 22q13.1 (39349948: 39385574)     Exons: 6     NC_000022.11
• Gene summary(Entrez): This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being re
• OMIM: 603925

Protein Summary

• Protein general information: O43759  
  • Name: Synaptogyrin 1
  • Length: 233  
  • Mass: 25456
• Sequence:

  MEGGAYGAGKAGGAFDPYTLVRQPHTILRVVSWLFSIVVFGSIVNEGYLNSASEGEEFCIYNRNPNACSYGVAVG
  VLAFLTCLLYLALDVYFPQISSVKDRKKAVLSDIGVSAFWAFLWFVGFCYLANQWQVSKPKDNPLNEGTDAARAA
  IAFSFFSIFTWAGQAVLAFQRYQIGADSALFSQDYMDPSQDSSMPYAPYVEPTGPDPAGMGGTYQQPANTFDTEP
  QGYQSQGY

• Structural information:
  • Protein Domains: (20..17-)
    (/note="MARVEL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00581"-)
  • Interpro: IPR008253  IPR016579  
  • Prosite: PS51225
  • STRING: ENSP00000332287
• Other Databases: GeneCards:  SYNGR1  Malacards:  SYNGR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0045055	regulated exocytosis	ISS	biological process
GO:0048499	synaptic vesicle membrane organization	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:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048499	synaptic vesicle membrane organization	IEA	biological process
GO:0045055	regulated exocytosis	IEA	biological process
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0006605	protein targeting	IEA	biological process
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	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:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq