• Gene id: 116841

Gene Summary

• Gene Symbol: SNAP47   Gene   UCSC   Ensembl
• Aliases: C1orf142, ESFI5812, HEL-S-290, HEL170, SNAP-47, SVAP1
• Gene name: synaptosome associated protein 47
• Alternate names: synaptosomal-associated protein 47, epididymis luminal protein 170, epididymis secretory protein Li 290, synaptosomal-associated 47 kDa protein, synaptosomal-associated protein, 47kDa, synaptosome associated protein 47kDa,
• Gene location: 1q42.13 (227728167: 227781230)     Exons: 13     NC_000001.11
• OMIM: 0

Protein Summary

• Protein general information: Q5SQN1  
  • Name: Synaptosomal associated protein 47 (SNAP 47) (Epididymis luminal protein 170) (Synaptosomal associated 47 kDa protein)
  • Length: 464  
  • Mass: 52562
• Sequence:

  MRAARRGLHCAGAERPRRRGRLWDSSGVPQRQKRPGPWRTQTQEQMSRDVCIHTWPCTYYLEPKRRWVTGQLSLT
  SLSLRFMTDSTGEILVSFPLSSIVEIKKEASHFIFSSITILEKGHAKHWFSSLRPSRNVVFSIIEHFWRELLLSQ
  PGAVADASVPRTRGEELTGLMAGSQKRLEDTARVLHHQGQQLDSVMRGLDKMESDLEVADRLLTELESPAWWPFS
  SKLWKTPPETKPREDVSMTSCEPFGKEGILIKIPAVISHRTESHVKPGRLTVLVSGLEIHDSSSLLMHRFEREDV
  DDIKVHSPYEISIRQRFIGKPDMAYRLISAKMPEVIPILEVQFSKKMELLEDALVLRSARTSSPAEKSCSVWHAA
  SGLMGRTLHREPPAGDQEGTALHLQTSLPALSEADTQELTQILRRMKGLALEAESELERQDEALDGVAAAVDRAT
  LTIDKHNRRMKRLT

• Structural information:
  • Protein Domains: (154..21-)
    homology (/note="t-SNARE-coiled-coil)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00202-)
    (401..46-)
    homology (/note="t-SNARE-coiled-coil)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00202"-)
  • Interpro: IPR011993  IPR000727  
  • Prosite: PS50192
  • STRING: ENSP00000314157
• Other Databases: GeneCards:  SNAP47  Malacards:  SNAP47

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006906	vesicle fusion	IBA	biological process
GO:0016082	synaptic vesicle priming	IBA	biological process
GO:0031201	SNARE complex	IBA	cellular component
GO:0005484	SNAP receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006887	exocytosis	IBA	biological process
GO:0019905	syntaxin binding	IBA	molecular function
GO:0031629	synaptic vesicle fusion to presynaptic active zone membrane	IBA	biological process
GO:0031083	BLOC-1 complex	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
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: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: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: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:0032279	asymmetric synapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0099003	vesicle-mediated transport in synapse	IEA	biological process
GO:0098967	exocytic insertion of neurotransmitter receptor to postsynaptic membrane	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq