• Gene id: 6861

Gene Summary

• Gene Symbol: SYT5   Gene   UCSC   Ensembl
• Gene name: synaptotagmin 5
• Alternate names: synaptotagmin-5, synaptotagmin V, sytV,
• Gene location: 11p (55180440: 55171195)     Exons: 10     NC_000019.10
• Gene summary(Entrez): Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative
• OMIM: 600782

Protein Summary

• Protein general information: O00445  
  • Name: Synaptotagmin 5 (Synaptotagmin V) (SytV)
  • Length: 386  
  • Mass: 42900
• Sequence:

  MFPEPPTPGPPSPDTPPDSSRISHGPVPPWALATIVLVSGLLIFSCCFCLYRKSCRRRTGKKSQAQAQVHLQEVK
  GLGQSYIDKVQPEVEELEPAPSGPGQQVADKHELGRLQYSLDYDFQSGQLLVGILQAMGLAALDLGGSSDPYVRV
  YLLPDKRRRYETKVHRQTLNPHFGETFAFKVPYVELGGRVLVMAVYDFDRFSRNDAIGEVRVPMSSVDLGRPVQA
  WRELQAAPREEQEKLGDICFSLRYVPTAGKLTVIVLEAKNLKKMDVGGLSDPYVKVHLLQGGKKVRKKKTTIKKN
  TLNPYYNEAFSFEVPCDQVQKVQVELTVLDYDKLGKNEAIGRVAVGAAAGGAGLRHWADMLANPRRPIAQWHSLR
  PPDRVRLLPAP

• Structural information:
  • Protein Domains: (108..22-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (239..37-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR001565  IPR028689  
  • Prosite: PS50004
  • PDB: 5H4Y 5H4Z
  • PDBsum: 5H4Y 5H4Z
  • STRING: ENSP00000346265
• Other Databases: GeneCards:  SYT5  Malacards:  SYT5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071277	cellular response to calcium ion	IBA	biological process
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IBA	biological process
GO:0031045	dense core granule	IBA	cellular component
GO:0030424	axon	IBA	cellular component
GO:0017158	regulation of calcium ion-dependent exocytosis	IBA	biological process
GO:0017156	calcium-ion regulated exocytosis	IBA	biological process
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0016079	synaptic vesicle exocytosis	IBA	biological process
GO:0014059	regulation of dopamine secretion	IBA	biological process
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0001786	phosphatidylserine binding	IBA	molecular function
GO:0070382	exocytic vesicle	IBA	cellular component
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0019905	syntaxin binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0000149	SNARE binding	IBA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0017158	regulation of calcium ion-dependent exocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:1990769	proximal neuron projection	IEA	cellular component
GO:0099066	integral component of neuronal dense core vesicle membrane	IEA	cellular component
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	molecular function
GO:0000149	SNARE binding	IEA	molecular function
GO:0030276	clathrin binding	IEA	molecular function
GO:0019905	syntaxin binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0031045	dense core granule	IEA	cellular component
GO:0017158	regulation of calcium ion-dependent exocytosis	IEA	biological process
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0001786	phosphatidylserine binding	IEA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component

Diseases

Associated diseases	References
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			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray