Entity Details

Primary name VMA21_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ3ZAQ7
EntryNameVMA21_HUMAN
FullNameVacuolar ATPase assembly integral membrane protein VMA21
TaxID9606
Evidenceevidence at protein level
Length101
SequenceStatuscomplete
DateCreated2008-04-29
DateModified2021-06-02

Ontological Relatives

GenesVMA21

GO terms

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GOName
GO:0005764 lysosome
GO:0005773 vacuole
GO:0005789 endoplasmic reticulum membrane
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016021 integral component of membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0043462 regulation of ATPase activity
GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly

Subcellular Location

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Subcellular Location
Cytoplasmic vesicle
Endoplasmic reticulum membrane
Endoplasmic reticulum-Golgi intermediate compartment membrane

Domains

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DomainNameCategoryType
IPR019013 Vacuolar ATPase assembly integral membrane protein Vma21FamilyFamily

Diseases

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Disease IDSourceNameDescription
310440 OMIMMyopathy, X-linked, with excessive autophagy (MEAX)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. The disease is caused by variants affecting the gene represented in this entry. 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.

Interactions

35 interactions

InteractorPartnerSourcesPublicationsLink
VMA21_HUMANCL12B_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANDGLA_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANLHPL5_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANPLLP_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANTMM60_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANYIF1A_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANCDIPT_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANVAMP2_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANS35E4_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANABHGA_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANINSI2_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANNPAL3_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANAT131_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANVATO_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANNINJ2_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANHMOX2_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANTECR_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANSEC20_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANTM107_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANAQP6_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANORML1_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANTHS7A_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANS2546_HUMANBioGRID, IntAct32296183 32877691 details
VMA21_HUMANAR6P1_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANRTP2_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANSCD_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANYIPF1_HUMANBioGRID, IntAct32296183 details
VMA21_HUMANADA33_HUMANBioGRID32296183 details
VMA21_HUMANLPD6B_HUMANBioGRID32296183 details
VMA21_HUMANVHL_HUMANIntAct17353931 details
VMA21_HUMANAAKB1_HUMANIntAct17353931 details
VMA21_HUMANIKKE_HUMANIntAct17353931 details
VMA21_HUMANHLAB_HUMANIntAct17353931 details
VMA21_HUMANRENR_HUMANBioGRID, IntAct26186194 28514442 29127204 details
VMA21_HUMANST7_HUMANBioGRID29395067 details