InnateDB Protein
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IDBP-88882.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VMA21
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Protein Name
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VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359386
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InnateDB Gene
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IDBG-88880 (VMA21)
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Protein Structure
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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}.
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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}.
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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}.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0070072
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vacuolar proton-transporting V-type ATPase complex assembly
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Cellular Component |
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PDB ID |
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InterPro |
IPR019013
Vacuolar ATPase assembly integral membrane protein VMA21-like domain
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PFAM |
PF09446
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q3ZAQ7
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
203547
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UniGene |
Hs.695310
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RefSeq |
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HUGO |
HGNC:22082
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OMIM |
300913
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CCDS |
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HPRD |
18578
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IMGT |
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EMBL |
AF003627
AK096835
BC103701
BC103702
BC105693
BC105694
BC110800
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GenPept |
AAI03702
AAI03703
AAI05694
AAI05695
AAI10801
BAG53371
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