• Gene id: 51028

Gene Summary

• Gene Symbol: VPS36   Gene   UCSC   Ensembl
• Aliases: C13orf9, CGI-145, EAP45
• Gene name: vacuolar protein sorting 36 homolog
• Alternate names: vacuolar protein-sorting-associated protein 36, ELL-associated protein of 45 kDa, ESCRT-II complex subunit VPS36,
• Gene location: 13q14.3 (32429615: 32400722)     Exons: 13     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is assoc
• OMIM: 610903

Protein Summary

• Protein general information: Q86VN1  
  • Name: Vacuolar protein sorting associated protein 36 (ELL associated protein of 45 kDa) (ESCRT II complex subunit VPS36)
  • Length: 386  
  • Mass: 43817
• Sequence:

  MDRFVWTSGLLEINETLVIQQRGVRIYDGEEKIKFDAGTLLLSTHRLIWRDQKNHECCMAILLSQIVFIEEQAAG
  IGKSAKIVVHLHPAPPNKEPGPFQSSKNSYIKLSFKEHGQIEFYRRLSEEMTQRRWENMPVSQSLQTNRGPQPGR
  IRAVGIVGIERKLEEKRKETDKNISEAFEDLSKLMIKAKEMVELSKSIANKIKDKQGDITEDETIRFKSYLLSMG
  IANPVTRETYGSGTQYHMQLAKQLAGILQVPLEERGGIMSLTEVYCLVNRARGMELLSPEDLVNACKMLEALKLP
  LRLRVFDSGVMVIELQSHKEEEMVASALETVSEKGSLTSEEFAKLVGMSVLLAKERLLLAEKMGHLCRDDSVEGL
  RFYPNLFMTQS

• Structural information:
  • Protein Domains: (1..8-)
    (/note="GLUE-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00828-)
    (105..13-)
    (/note="GLUE-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00828"-)
  • Interpro: IPR021648  IPR011993  IPR040608  IPR037855  IPR036388   IPR036390  
  • Prosite: PS51495
  • PDB: 2HTH 2ZME 3CUQ
  • PDBsum: 2HTH 2ZME 3CUQ
  • DIP: 29249
  • STRING: ENSP00000367299
• Other Databases: GeneCards:  VPS36  Malacards:  VPS36

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000814	ESCRT II complex	TAS	cellular component
GO:0036258	multivesicular body assembly	TAS	biological process
GO:0016236	macroautophagy	TAS	biological process
GO:0031902	late endosome membrane	IBA	cellular component
GO:0043328	protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IBA	biological process
GO:0000814	ESCRT II complex	IBA	cellular component
GO:0043130	ubiquitin binding	IBA	molecular function
GO:0032509	endosome transport via multivesicular body sorting pathway	IEA	biological process
GO:0000814	ESCRT II complex	IEA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IEA	molecular function
GO:0043130	ubiquitin binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016197	endosomal transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	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:0005764	lysosome	IEA	cellular component
GO:0043130	ubiquitin binding	IEA	molecular function
GO:0005770	late endosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000814	ESCRT II complex	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0005829	cytosol	IDA	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:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043130	ubiquitin binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

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