InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VMA21

Summary

InnateDB Protein

IDBP-88884.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

VMA21

Protein Name

VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000333255

InnateDB Gene

IDBG-88880 (VMA21)

Protein Structure

UniProt Annotation

Function

Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum. {ECO:0000255HAMAP-Rule:MF_03058, ECO:0000269PubMed:19379691}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000255HAMAP-Rule:MF_03058, ECO:0000269PubMed:19379691}; Multi-pass membrane protein {ECO:0000255HAMAP-Rule:MF_03058, ECO:0000269PubMed:19379691}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000255HAMAP- Rule:MF_03058, ECO:0000269PubMed:19379691}; Multi-pass membrane protein {ECO:0000255HAMAP-Rule:MF_03058, ECO:0000269PubMed:19379691}. Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000255HAMAP-Rule:MF_03058, ECO:0000269PubMed:19379691}; Multi-pass membrane protein {ECO:0000255HAMAP-Rule:MF_03058, ECO:0000269PubMed:19379691}.

Disease Associations

Myopathy, X-linked, with excessive autophagy (MEAX) [MIM:310440]: A muscle disorder characterized by childhood early onset of a slowly progressive proximal limb muscle weakness (especially in legs) and elevation of serum creatine kinase, without evidence of cardiac, respiratory or central nervous system involvement. Histopathological analysis reveals diseased muscle fibers that are not necrotic, but show abnormal autophagic vacuolation as a manifestation of excessive autophagic activity in skeletal muscle cells. {ECO:0000269PubMed:19379691}. Note=The gene represented in this entry may be involved in disease pathogenesis. VMA21 deficiency results in an increase of lysosomal pH from 4.7 to 5.2, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, which upregulates the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge together, and vacuolate the cell (PubMed:19379691). {ECO:0000269PubMed:19379691}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0070072

vacuolar proton-transporting V-type ATPase complex assembly

Cellular Component

GO:0005764	lysosome
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0030127	COPII vesicle coat
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane