• Gene id: 23339

Gene Summary

• Gene Symbol: VPS39   Gene   UCSC   Ensembl
• Aliases: TLP, VAM6, hVam6p
• Gene name: VPS39 subunit of HOPS complex
• Alternate names: vam6/Vps39-like protein, TRAP1-like protein, VPS39, HOPS complex subunit, vacuolar protein sorting 39 homolog,
• Gene location: 15q15.1 (42208330: 42158700)     Exons: 28     NC_000015.10
• Gene summary(Entrez): This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta

Protein Summary

• Protein general information: Q96JC1  
  • Name: Vam6/Vps39 like protein (TRAP1 like protein) (hVam6p)
  • Length: 886  
  • Mass: 101809
  • Tissue specificity: Widely expressed, with highest levels in heart, skeletal muscle, kidney, pancreas, brain, placenta and spleen. {ECO
• Sequence:

  MHDAFEPVPILEKLPLQIDCLAAWEEWLLVGTKQGHLLLYRIRKDVVPADVASPESGSCNRFEVTLEKSNKNFSK
  KIQQIHVVSQFKILVSLLENNIYVHDLLTFQQITTVSKAKGASLFTCDLQHTETGEEVLRMCVAVKKKLQLYFWK
  DREFHELQGDFSVPDVPKSMAWCENSICVGFKRDYYLIRVDGKGSIKELFPTGKQLEPLVAPLADGKVAVGQDDL
  TVVLNEEGICTQKCALNWTDIPVAMEHQPPYIIAVLPRYVEIRTFEPRLLVQSIELQRPRFITSGGSNIIYVASN
  HFVWRLIPVPMATQIQQLLQDKQFELALQLAEMKDDSDSEKQQQIHHIKNLYAFNLFCQKRFDESMQVFAKLGTD
  PTHVMGLYPDLLPTDYRKQLQYPNPLPVLSGAELEKAHLALIDYLTQKRSQLVKKLNDSDHQSSTSPLMEGTPTI
  KSKKKLLQIIDTTLLKCYLHTNVALVAPLLRLENNHCHIEESEHVLKKAHKYSELIILYEKKGLHEKALQVLVDQ
  SKKANSPLKGHERTVQYLQHLGTENLHLIFSYSVWVLRDFPEDGLKIFTEDLPEVESLPRDRVLGFLIENFKGLA
  IPYLEHIIHVWEETGSRFHNCLIQLYCEKVQGLMKEYLLSFPAGKTPVPAGEEEGELGEYRQKLLMFLEISSYYD
  PGRLICDFPFDGLLEERALLLGRMGKHEQALFIYVHILKDTRMAEEYCHKHYDRNKDGNKDVYLSLLRMYLSPPS
  IHCLGPIKLELLEPKANLQAALQVLELHHSKLDTTKALNLLPANTQINDIRIFLEKVLEENAQKKRFNQVLKNLL
  HAEFLRVQEERILHQQVKCIITEEKVCMVCKKKIGNSAFARYPNGVVVHYFCSKEVNPADT

• Structural information:
  • Protein Domains: (15..29-)
    (/note="CNH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00795"-)
  • Interpro: IPR000547  IPR001180  IPR032914  IPR019452  IPR019453  
  • Prosite: PS50236 PS50219
  • STRING: ENSP00000335193
• Other Databases: GeneCards:  VPS39  Malacards:  VPS39

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0031902	late endosome membrane	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:1902774	late endosome to lysosome transport	IDA	biological process
GO:0034058	endosomal vesicle fusion	IDA	biological process
GO:0030897	HOPS complex	IDA	cellular component
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006914	autophagy	IMP	biological process
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:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030123	AP-3 adaptor complex	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0030897	HOPS complex	IDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray