• Gene id: 23557

Gene Summary

• Gene Symbol: SNAPIN   Gene   UCSC   Ensembl
• Aliases: BLOC1S7, BLOS7, BORCS3, SNAPAP
• Gene name: SNAP associated protein
• Alternate names: SNARE-associated protein Snapin, BLOC-1 related complex subunit 3, BLOC-1 subunit 7, SNAP-25-binding protein, SNARE associated protein snapin, biogenesis of lysosomal organelles complex-1, subunit 7, biogenesis of lysosome-related organelles complex 1 subunit 7,
• Gene location: 1q21.3 (48244299: 48363002)     Exons: 18     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles)
• OMIM: 607007

Protein Summary

• Protein general information: O95295  
  • Name: SNARE associated protein Snapin (Biogenesis of lysosome related organelles complex 1 subunit 7) (BLOC 1 subunit 7) (Synaptosomal associated protein 25 binding protein) (SNAP associated protein)
  • Length: 136  
  • Mass: 14874
  • Tissue specificity: Expressed in male germ cells of adult testis (at protein level). {ECO
• Sequence:

  MAGAGSAAVSGAGTPVAGPTGRDLFAEGLLEFLRPAVQQLDSHVHAVRESQVELREQIDNLATELCRINEDQKVA
  LDLDPYVKKLLNARRRVVLVNNILQNAQERLRRLNHSVAKETARRRAMLDSGIYPPGSPGK

• Structural information:
  • Interpro: IPR017246  IPR028119  
  • STRING: ENSP00000357674
• Other Databases: GeneCards:  SNAPIN  Malacards:  SNAPIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902824	positive regulation of late endosome to lysosome transport	TAS	biological process
GO:0043393	regulation of protein binding	IMP	biological process
GO:0007040	lysosome organization	IBA	biological process
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0008333	endosome to lysosome transport	IBA	biological process
GO:0016079	synaptic vesicle exocytosis	IBA	biological process
GO:0031083	BLOC-1 complex	IBA	cellular component
GO:0032418	lysosome localization	IBA	biological process
GO:0099078	BORC complex	IBA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IBA	biological process
GO:0000149	SNARE binding	IBA	molecular function
GO:0099078	BORC complex	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0008021	synaptic vesicle	IDA	cellular component
GO:0032418	lysosome localization	IMP	biological process
GO:0031175	neuron projection development	ISS	biological process
GO:0030141	secretory granule	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048490	anterograde synaptic vesicle transport	ISS	biological process
GO:0048489	synaptic vesicle transport	IMP	biological process
GO:0008089	anterograde axonal transport	ISS	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:0031083	BLOC-1 complex	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0000149	SNARE binding	TAS	molecular function
GO:0006886	intracellular protein transport	TAS	biological process
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0016079	synaptic vesicle exocytosis	IDA	biological process
GO:0045202	synapse	IDA	cellular component
GO:0000149	SNARE binding	IDA	molecular function
GO:0008333	endosome to lysosome transport	IGI	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: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: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:0030141	secretory granule	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IEA	biological process
GO:1902774	late endosome to lysosome transport	IEA	biological process
GO:0051604	protein maturation	IEA	biological process
GO:0034629	cellular protein-containing complex localization	IEA	biological process
GO:0031083	BLOC-1 complex	IEA	cellular component
GO:0016188	synaptic vesicle maturation	IEA	biological process
GO:0008090	retrograde axonal transport	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0097352	autophagosome maturation	IEA	biological process
GO:0072553	terminal button organization	IEA	biological process
GO:0048490	anterograde synaptic vesicle transport	IEA	biological process
GO:0031629	synaptic vesicle fusion to presynaptic active zone membrane	IEA	biological process
GO:0010977	negative regulation of neuron projection development	IEA	biological process
GO:0008089	anterograde axonal transport	IEA	biological process
GO:0007042	lysosomal lumen acidification	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0031083	BLOC-1 complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032438	melanosome organization	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881