• Gene id: 64601

Gene Summary

• Gene Symbol: VPS16   Gene   UCSC   Ensembl
• Aliases: hVPS16
• Gene name: VPS16 core subunit of CORVET and HOPS complexes
• Alternate names: vacuolar protein sorting-associated protein 16 homolog, VPS16, CORVET/HOPS core subunit, vacuolar protein sorting 16 homolog, vacuolar protein sorting protein 16,
• Gene location: 20p13 (2840696: 2866731)     Exons: 24     NC_000020.11
• 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: 162150

Protein Summary

• Protein general information: Q9H269  
  • Name: Vacuolar protein sorting associated protein 16 homolog (hVPS16)
  • Length: 839  
  • Mass: 94694
  • Tissue specificity: Ubiquitous.
• Sequence:

  MDCYTANWNPLGDSAFYRKYELYSMDWDLKEELRDCLVAAAPYGGPIALLRNPWRKEKAASVRPVLDIYSASGMP
  LASLLWKSGPVVSLGWSAEEELLCVQEDGAVLVYGLHGDFRRHFSMGNEVLQNRVLDARIFHTEFGSGVAILTGA
  HRFTLSANVGDLKLRRMPEVPGLQSAPSCWTVLCQDRVAHILLAVGPDLYLLDHAACSAVTPPGLAPGVSSFLQM
  AVSFTYRHLALFTDTGYIWMGTASLKEKLCEFNCNIRAPPKQMVWCSRPRSKERAVVVAWERRLMVVGDAPESIQ
  FVLDEDSYLVPELDGVRIFSRSTHEFLHEVPAASEEIFKIASMAPGALLLEAQKEYEKESQKADEYLREIQELGQ
  LTQAVQQCIEAAGHEHQPDMQKSLLRAASFGKCFLDRFPPDSFVHMCQDLRVLNAVRDYHIGIPLTYSQYKQLTI
  QVLLDRLVLRRLYPLAIQICEYLRLPEVQGVSRILAHWACYKVQQKDVSDEDVARAINQKLGDTPGVSYSDIAAR
  AYGCGRTELAIKLLEYEPRSGEQVPLLLKMKRSKLALSKAIESGDTDLVFTVLLHLKNELNRGDFFMTLRNQPMA
  LSLYRQFCKHQELETLKDLYNQDDNHQELGSFHIRASYAAEERIEGRVAALQTAADAFYKAKNEFAAKATEDQMR
  LLRLQRRLEDELGGQFLDLSLHDTVTTLILGGHNKRAEQLARDFRIPDKRLWWLKLTALADLEDWEELEKFSKSK
  KSPIGYLPFVEICMKQHNKYEAKKYASRVGPEQKVKALLLVGDVAQAADVAIEHRNEAELSLVLSHCTGATDGAT
  ADKIQRARAQAQKK

• Structural information:
  • Interpro: IPR016534  IPR006925  IPR038132  IPR006926  
  • PDB: 4BX9
  • PDBsum: 4BX9
  • STRING: ENSP00000369810
• Other Databases: GeneCards:  VPS16  Malacards:  VPS16

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032889	regulation of vacuole fusion, non-autophagic	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0003779	actin binding	IBA	molecular function
GO:0035542	regulation of SNARE complex assembly	IBA	biological process
GO:0030897	HOPS complex	IBA	cellular component
GO:0016197	endosomal transport	IBA	biological process
GO:0030897	HOPS complex	IDA	cellular component
GO:0030897	HOPS complex	IDA	cellular component
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0097352	autophagosome maturation	IMP	biological process
GO:0007033	vacuole organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006914	autophagy	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:0005768	endosome	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0051015	actin filament binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0030897	HOPS complex	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	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

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