• Gene id: 203547

Gene Summary

• Gene Symbol: VMA21   Gene   UCSC   Ensembl
• Aliases: MEAX, XMEA
• Gene name: vacuolar ATPase assembly factor VMA21
• Alternate names: vacuolar ATPase assembly integral membrane protein VMA21, VMA21 vacuolar H+-ATPase homolog, VMA21, vacuolar ATPase assembly factor, myopathy with excessive autophagy protein,
• Gene location: Xq28 (151396594: 151409363)     Exons: 4     NC_000023.11
• Gene summary(Entrez): This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]
• OMIM: 300913

Protein Summary

• Protein general information: Q3ZAQ7  
  • Name: Vacuolar ATPase assembly integral membrane protein VMA21 (Myopathy with excessive autophagy protein)
  • Length: 101  
  • Mass: 11354
• Sequence:

  MERPDKAALNALQPPEFRNESSLASTLKTLLFFTALMITVPIGLYFTTKSYIFEGALGMSNRDSYFYAAIVAVVA
  VHVVLALFVYVAWNEGSRQWREGKQD

• Structural information:
  • Interpro: IPR019013  
  • STRING: ENSP00000333255
• Other Databases: GeneCards:  VMA21  Malacards:  VMA21

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043462	regulation of ATPase activity	TAS	biological process
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	TAS	biological process
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005773	vacuole	IBA	cellular component
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005764	lysosome	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: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: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:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Autophagic vacuolar myopathy	KEGG:H01781
Autophagic vacuolar myopathy	KEGG:H01781
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)