• Gene id: 6856

Gene Summary

• Gene Symbol: SYPL1   Gene   UCSC   Ensembl
• Aliases: H-SP1, SYPL
• Gene name: synaptophysin like 1
• Alternate names: synaptophysin-like protein 1, pantophysin,
• Gene location: 7q22.3 (106112575: 106090361)     Exons: 6     NC_000007.14
• OMIM: 616665

Protein Summary

• Protein general information: Q16563  
  • Name: Synaptophysin like protein 1 (Pantophysin)
  • Length: 259  
  • Mass: 28565
• Sequence:

  MAPNIYLVRQRISRLGQRMSGFQINLNPLKEPLGFIKVLEWIASIFAFATCGGFKGQTEIQVNCPPAVTENKTVT
  ATFGYPFRLNEASFQPPPGVNICDVNWKDYVLIGDYSSSAQFYVTFAVFVFLYCIAALLLYVGYTSLYLDSRKLP
  MIDFVVTLVATFLWLVSTSAWAKALTDIKIATGHNIIDELPPCKKKAVLCYFGSVTSMGSLNVSVIFGFLNMILW
  GGNAWFVYKETSLHSPSNTSAPHSQGGIPPPTGI

• Structural information:
  • Protein Domains: (28..23-)
    (/note="MARVEL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00581"-)
  • Interpro: IPR008253  IPR001285  
  • Prosite: PS51225
  • STRING: ENSP00000011473
• Other Databases: GeneCards:  SYPL1  Malacards:  SYPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017075	syntaxin-1 binding	IBA	molecular function
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
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:0030141	secretory granule	IEA	cellular component
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R