• Gene id: 57617

Gene Summary

• Gene Symbol: VPS18   Gene   UCSC   Ensembl
• Aliases: PEP3
• Gene name: VPS18 core subunit of CORVET and HOPS complexes
• Alternate names: vacuolar protein sorting-associated protein 18 homolog, VPS18, CORVET/HOPS core subunit, hVPS18, vacuolar protein sorting 18 homolog, vacuolar protein sorting protein 18,
• Gene location: 15q15.1 (40894409: 40903974)     Exons: 7     NC_000015.10
• Gene summary(Entrez): Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuol
• OMIM: 608551

Protein Summary

• Protein general information: Q9P253  
  • Name: Vacuolar protein sorting associated protein 18 homolog (hVPS18)
  • Length: 973  
  • Mass: 110186
  • Tissue specificity: Ubiquitous. Expression was highest in heart and low in lung. {ECO
• Sequence:

  MASILDEYENSLSRSAVLQPGCPSVGIPHSGYVNAQLEKEVPIFTKQRIDFTPSERITSLVVSSNQLCMSLGKDT
  LLRIDLGKANEPNHVELGRKDDAKVHKMFLDHTGSHLLIALSSTEVLYVNRNGQKVRPLARWKGQLVESVGWNKA
  LGTESSTGPILVGTAQGHIFEAELSASEGGLFGPAPDLYFRPLYVLNEEGGPAPVCSLEAERGPDGRSFVIATTR
  QRLFQFIGRAAEGAEAQGFSGLFAAYTDHPPPFREFPSNLGYSELAFYTPKLRSAPRAFAWMMGDGVLYGALDCG
  RPDSLLSEERVWEYPEGVGPGASPPLAIVLTQFHFLLLLADRVEAVCTLTGQVVLRDHFLEKFGPLKHMVKDSST
  GQLWAYTERAVFRYHVQREARDVWRTYLDMNRFDLAKEYCRERPDCLDTVLAREADFCFRQRRYLESARCYALTQ
  SYFEEIALKFLEARQEEALAEFLQRKLASLKPAERTQATLLTTWLTELYLSRLGALQGDPEALTLYRETKECFRT
  FLSSPRHKEWLFASRASIHELLASHGDTEHMVYFAVIMQDYERVVAYHCQHEAYEEALAVLARHRDPQLFYKFSP
  ILIRHIPRQLVDAWIEMGSRLDARQLIPALVNYSQGGEVQQVSQAIRYMEFCVNVLGETEQAIHNYLLSLYARGR
  PDSLLAYLEQAGASPHRVHYDLKYALRLCAEHGHHRACVHVYKVLELYEEAVDLALQVDVDLAKQCADLPEEDEE
  LRKKLWLKIARHVVQEEEDVQTAMACLASCPLLKIEDVLPFFPDFVTIDHFKEAICSSLKAYNHHIQELQREMEE
  ATASAQRIRRDLQELRGRYGTVEPQDKCATCDFPLLNRPFYLFLCGHMFHADCLLQAVRPGLPAYKQARLEELQR
  KLGAAPPPAKGSARAKEAEGGAATAGPSREQLKADLDELVAAECVYCGELMIRSIDRPFIDPQRYEEEQLSWL

• Structural information:
  • Interpro: IPR000547  IPR007810  
  • Prosite: PS50236
  • STRING: ENSP00000220509
• Other Databases: GeneCards:  VPS18  Malacards:  VPS18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0035542	regulation of SNARE complex assembly	IBA	biological process
GO:0030897	HOPS complex	IBA	cellular component
GO:0030674	protein-macromolecule adaptor activity	IBA	molecular function
GO:0006904	vesicle docking involved in exocytosis	IBA	biological process
GO:0007040	lysosome organization	IBA	biological process
GO:0007033	vacuole organization	IBA	biological process
GO:0007032	endosome organization	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0030897	HOPS complex	IDA	cellular component
GO:0007040	lysosome organization	IDA	biological process
GO:0007032	endosome organization	IDA	biological process
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	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:0030123	AP-3 adaptor complex	IEA	cellular component
GO:0007032	endosome organization	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0098793	presynapse	IEA	cellular component
GO:0046718	viral entry into host cell	IEA	biological process
GO:0033263	CORVET complex	IEA	cellular component
GO:0005884	actin filament	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0019905	syntaxin binding	IDA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0030897	HOPS complex	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IMP	biological process
GO:2000300	regulation of synaptic vesicle exocytosis	IDA	biological process
GO:2000300	regulation of synaptic vesicle exocytosis	EXP	biological process
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	EXP	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq