• Gene id: 81671

Gene Summary

• Gene Symbol: VMP1   Gene   UCSC   Ensembl
• Aliases: EPG3, TANGO5, TMEM49
• Gene name: vacuole membrane protein 1
• Alternate names: vacuole membrane protein 1, ectopic P-granules autophagy protein 3 homolog, transmembrane protein 49, transport and golgi organization 5 homolog,
• Gene location: 17q23.1 (59707653: 59842254)     Exons: 13     NC_000017.11
• Gene summary(Entrez): This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed
• OMIM: 607973

Protein Summary

• Protein general information: Q96GC9  
  • Name: Vacuole membrane protein 1 (Transmembrane protein 49)
  • Length: 406  
  • Mass: 46238
• Sequence:

  MAENGKNCDQRRVAMNKEHHNGNFTDPSSVNEKKRREREERQNIVLWRQPLITLQYFSLEILVILKEWTSKLWHR
  QSIVVSFLLLLAVLIATYYVEGVHQQYVQRIEKQFLLYAYWIGLGILSSVGLGTGLHTFLLYLGPHIASVTLAAY
  ECNSVNFPEPPYPDQIICPDEEGTEGTISLWSIISKVRIEACMWGIGTAIGELPPYFMARAARLSGAEPDDEEYQ
  EFEEMLEHAESAQDFASRAKLAVQKLVQKVGFFGILACASIPNPLFDLAGITCGHFLVPFWTFFGATLIGKAIIK
  MHIQKIFVIITFSKHIVEQMVAFIGAVPGIGPSLQKPFQEYLEAQRQKLHHKSEMGTPQGENWLSWMFEKLVVVM
  VCYFILSIINSMAQSYAKRIQQRLNSEEKTK

• Structural information:
  • Interpro: IPR032816  
  • STRING: ENSP00000262291
• Other Databases: GeneCards:  VMP1  Malacards:  VMP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0012505	endomembrane system	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0007030	Golgi organization	IBA	biological process
GO:0006914	autophagy	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000045	autophagosome assembly	IMP	biological process
GO:0000045	autophagosome assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005773	vacuole	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000407	phagophore assembly site	IEA	cellular component
GO:0007566	embryo implantation	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0000421	autophagosome membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0005774	vacuolar membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000421	autophagosome membrane	ISS	cellular component
GO:0034329	cell junction assembly	IMP	biological process
GO:0098609	cell-cell adhesion	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal

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