• Gene id: 83850

Gene Summary

• Gene Symbol: ESYT3   Gene   UCSC   Ensembl
• Aliases: CHR3SYT, E-Syt3, FAM62C
• Gene name: extended synaptotagmin 3
• Alternate names: extended synaptotagmin-3, chr3 synaptotagmin, extended synaptotagmin protein 3, family with sequence similarity 62 (C2 domain containing), member C,
• Gene location: 3q22.3 (138434572: 138481685)     Exons: 21     NC_000003.12
• OMIM: 608453

Protein Summary

• Protein general information: A0FGR9  
  • Name: Extended synaptotagmin 3 (E Syt3) (Chr3Syt)
  • Length: 886  
  • Mass: 100035
  • Tissue specificity: Widely expressed with high level in cerebellum and skin. {ECO
• Sequence:

  MRAEEPCAPGAPSALGAQRTPGPELRLSSQLLPELCTFVVRVLFYLGPVYLAGYLGLSITWLLLGALLWMWWRRN
  RRGKLGRLAAAFEFLDNEREFISRELRGQHLPAWIHFPDVERVEWANKIISQTWPYLSMIMESKFREKLEPKIRE
  KSIHLRTFTFTKLYFGQKCPRVNGVKAHTNTCNRRRVTVDLQICYIGDCEISVELQKIQAGVNGIQLQGTLRVIL
  EPLLVDKPFVGAVTVFFLQKPHLQINWTGLTNLLDAPGINDVSDSLLEDLIATHLVLPNRVTVPVKKGLDLTNLR
  FPLPCGVIRVHLLEAEQLAQKDNFLGLRGKSDPYAKVSIGLQHFRSRTIYRNLNPTWNEVFEFMVYEVPGQDLEV
  DLYDEDTDRDDFLGSLQICLGDVMTNRVVDEWFVLNDTTSGRLHLRLEWLSLLTDQEVLTEDHGGLSTAILVVFL
  ESACNLPRNPFDYLNGEYRAKKLSRFARNKVSKDPSSYVKLSVGKKTHTSKTCPHNKDPVWSQVFSFFVHNVATE
  RLHLKVLDDDQECALGMLEVPLCQILPYADLTLEQRFQLDHSGLDSLISMRLVLRFLQVEERELGSPYTGPEALK
  KGPLLIKKVATNQGPKAQPQEEGPTDLPCPPDPASDTKDVSRSTTTTTSATTVATEPTSQETGPEPKGKDSAKRF
  CEPIGEKKSPATIFLTVPGPHSPGPIKSPRPMKCPASPFAWPPKRLAPSMSSLNSLASSCFDLADISLNIEGGDL
  RRRQLGEIQLTVRYVCLRRCLSVLINGCRNLTPCTSSGADPYVRVYLLPERKWACRKKTSVKRKTLEPLFDETFE
  FFVPMEEVKKRSLDVAVKNSRPLGSHRRKELGKVLIDLSKEDLIKGFSQWYELTPNGQPRS

• Structural information:
  • Protein Domains: (114..29-)
    (/note="SMP-LTD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01194-)
    (291..40-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (426..56-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR037752  IPR037733  IPR037749   IPR031468  IPR039010  
  • Prosite: PS50004 PS51847
  • CDD: cd08391 cd04050 cd04030
  • DIP: 61998
  • STRING: ENSP00000374218
• Other Databases: GeneCards:  ESYT3  Malacards:  ESYT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008429	phosphatidylethanolamine binding	IBA	molecular function
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IBA	cellular component
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0031210	phosphatidylcholine binding	IBA	molecular function
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IBA	cellular component
GO:0044232	organelle membrane contact site	IDA	cellular component
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IDA	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IDA	cellular component
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IDA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0061817	endoplasmic reticulum-plasma membrane tethering	IEA	biological process
GO:0006869	lipid transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq