• Gene id: 23344

Gene Summary

• Gene Symbol: ESYT1   Gene   UCSC   Ensembl
• Aliases: FAM62A, MBC2
• Gene name: extended synaptotagmin 1
• Alternate names: extended synaptotagmin-1, extended synaptotagmin like protein 1, extended synaptotagmin protein 1, family with sequence similarity 62 (C2 domain containing), member A, membrane-bound C2 domain-containing protein,
• Gene location: 12q13.2 (56128201: 56144675)     Exons: 31     NC_000012.12
• OMIM: 617250

Protein Summary

• Protein general information: Q9BSJ8  
  • Name: Extended synaptotagmin 1 (E Syt1) (Membrane bound C2 domain containing protein)
  • Length: 1104  
  • Mass: 122856
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MERSPGEGPSPSPMDQPSAPSDPTDQPPAAHAKPDPGSGGQPAGPGAAGEALAVLTSFGRRLLVLIPVYLAGAVG
  LSVGFVLFGLALYLGWRRVRDEKERSLRAARQLLDDEEQLTAKTLYMSHRELPAWVSFPDVEKAEWLNKIVAQVW
  PFLGQYMEKLLAETVAPAVRGSNPHLQTFTFTRVELGEKPLRIIGVKVHPGQRKEQILLDLNISYVGDVQIDVEV
  KKYFCKAGVKGMQLHGVLRVILEPLIGDLPFVGAVSMFFIRRPTLDINWTGMTNLLDIPGLSSLSDTMIMDSIAA
  FLVLPNRLLVPLVPDLQDVAQLRSPLPRGIIRIHLLAARGLSSKDKYVKGLIEGKSDPYALVRLGTQTFCSRVID
  EELNPQWGETYEVMVHEVPGQEIEVEVFDKDPDKDDFLGRMKLDVGKVLQASVLDDWFPLQGGQGQVHLRLEWLS
  LLSDAEKLEQVLQWNWGVSSRPDPPSAAILVVYLDRAQDLPLKKGNKEPNPMVQLSIQDVTQESKAVYSTNCPVW
  EEAFRFFLQDPQSQELDVQVKDDSRALTLGALTLPLARLLTAPELILDQWFQLSSSGPNSRLYMKLVMRILYLDS
  SEICFPTVPGCPGAWDVDSENPQRGSSVDAPPRPCHTTPDSQFGTEHVLRIHVLEAQDLIAKDRFLGGLVKGKSD
  PYVKLKLAGRSFRSHVVREDLNPRWNEVFEVIVTSVPGQELEVEVFDKDLDKDDFLGRCKVRLTTVLNSGFLDEW
  LTLEDVPSGRLHLRLERLTPRPTAAELEEVLQVNSLIQTQKSAELAAALLSIYMERAEDLPLRKGTKHLSPYATL
  TVGDSSHKTKTISQTSAPVWDESASFLIRKPHTESLELQVRGEGTGVLGSLSLPLSELLVADQLCLDRWFTLSSG
  QGQVLLRAQLGILVSQHSGVEAHSHSYSHSSSSLSEEPELSGGPPHITSSAPELRQRLTHVDSPLEAPAGPLGQV
  KLTLWYYSEERKLVSIVHGCRSLRQNGRDPPDPYVSLLLLPDKNRGTKRRTSQKKRTLSPEFNERFEWELPLDEA
  QRRKLDVSVKSNSSFMSRERELLGKVQLDLAETDLSQGVARWYDLMDNKDKGSS

• Structural information:
  • Protein Domains: (135..31-)
    (/note="SMP-LTD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01194-)
    (312..43-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (460..58-)
    (/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: 57197
  • STRING: ENSP00000267113
• Other Databases: GeneCards:  ESYT1  Malacards:  ESYT1

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:0030176	integral component of endoplasmic reticulum membrane	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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881