UniProtKB - Q3ZAQ7 (VMA21_HUMAN)
Protein
Vacuolar ATPase assembly integral membrane protein VMA21
Gene
VMA21
Organism
Homo sapiens (Human)
Status
Functioni
Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.UniRule annotation1 Publication
Caution
Protein characterization data are from PubMed:19379691. Due to a number of errors in the figure panels, the article has been retracted but the authors stand by the validity of the main results and conclusions (PubMed:20873370).1 Publication
GO - Biological processi
- regulation of ATPase activity Source: ParkinsonsUK-UCL
- vacuolar proton-transporting V-type ATPase complex assembly Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q3ZAQ7 |
Names & Taxonomyi
Protein namesi | Recommended name: Vacuolar ATPase assembly integral membrane protein VMA21UniRule annotationAlternative name(s): Myopathy with excessive autophagy protein |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:22082, VMA21 |
MIMi | 300913, gene |
neXtProti | NX_Q3ZAQ7 |
VEuPathDBi | HostDB:ENSG00000160131.13 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane UniRule annotation2 Publications; Multi-pass membrane protein UniRule annotation
Other locations
- Endoplasmic reticulum-Golgi intermediate compartment membrane UniRule annotation2 Publications; Multi-pass membrane protein UniRule annotation
- COPII-coated vesicle membrane UniRule annotation2 Publications; Multi-pass membrane protein UniRule annotation
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: GO_Central
Lysosome
- lysosome Source: LIFEdb
Other locations
- endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
- ER to Golgi transport vesicle membrane Source: UniProtKB-SubCell
- integral component of membrane Source: UniProtKB-KW
- vacuole Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 25 | CytoplasmicUniRule annotationAdd BLAST | 25 | |
Transmembranei | 26 – 46 | HelicalUniRule annotationAdd BLAST | 21 | |
Topological domaini | 47 – 65 | LumenalUniRule annotationAdd BLAST | 19 | |
Transmembranei | 66 – 86 | HelicalUniRule annotationAdd BLAST | 21 | |
Topological domaini | 87 – 101 | CytoplasmicUniRule annotationAdd BLAST | 15 |
Keywords - Cellular componenti
Cytoplasmic vesicle, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Myopathy, X-linked, with excessive autophagy (MEAX)4 Publications
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.1 Publication
Disease descriptionA 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 203547 |
MalaCardsi | VMA21 |
MIMi | 310440, phenotype |
OpenTargetsi | ENSG00000160131 |
Orphaneti | 25980, X-linked myopathy with excessive autophagy |
PharmGKBi | PA164727498 |
Miscellaneous databases
Pharosi | Q3ZAQ7, Tdark |
Genetic variation databases
BioMutai | VMA21 |
DMDMi | 121943063 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000331499 | 1 – 101 | Vacuolar ATPase assembly integral membrane protein VMA21Add BLAST | 101 |
Proteomic databases
EPDi | Q3ZAQ7 |
jPOSTi | Q3ZAQ7 |
MassIVEi | Q3ZAQ7 |
MaxQBi | Q3ZAQ7 |
PaxDbi | Q3ZAQ7 |
PeptideAtlasi | Q3ZAQ7 |
PRIDEi | Q3ZAQ7 |
ProteomicsDBi | 61901 [Q3ZAQ7-1] 61902 [Q3ZAQ7-2] |
TopDownProteomicsi | Q3ZAQ7-1 [Q3ZAQ7-1] Q3ZAQ7-2 [Q3ZAQ7-2] |
PTM databases
iPTMneti | Q3ZAQ7 |
PhosphoSitePlusi | Q3ZAQ7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000160131, Expressed in substantia nigra and 219 other tissues |
Genevisiblei | Q3ZAQ7, HS |
Organism-specific databases
HPAi | ENSG00000160131, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ3ZAQ7
Protein-protein interaction databases
BioGRIDi | 128477, 84 interactors |
IntActi | Q3ZAQ7, 46 interactors |
STRINGi | 9606.ENSP00000333255 |
Miscellaneous databases
RNActi | Q3ZAQ7, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the VMA21 family.UniRule annotation
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4783, Eukaryota |
GeneTreei | ENSGT00390000017980 |
HOGENOMi | CLU_143588_0_0_1 |
InParanoidi | Q3ZAQ7 |
OMAi | WNEGTPK |
OrthoDBi | 1603333at2759 |
PhylomeDBi | Q3ZAQ7 |
TreeFami | TF314021 |
Family and domain databases
HAMAPi | MF_03058, VMA21, 1 hit |
InterProi | View protein in InterPro IPR019013, Vma21 |
PANTHERi | PTHR31792, PTHR31792, 1 hit |
Pfami | View protein in Pfam PF09446, VMA21, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q3ZAQ7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MERPDKAALN ALQPPEFRNE SSLASTLKTL LFFTALMITV PIGLYFTTKS
60 70 80 90 100
YIFEGALGMS NRDSYFYAAI VAVVAVHVVL ALFVYVAWNE GSRQWREGKQ
D
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041257 | 1 – 17 | MERPD…QPPEF → MLGSPCGPQLSDRDADEDQC SREFRGRRSRRPPRRTMLRG KSRLNVEWLGYSPGLLLEHR PLLAGRTPRSHR in isoform 2. CuratedAdd BLAST | 17 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK096835 mRNA Translation: BAG53371.1 AF003627 Genomic DNA No translation available. BC103701 mRNA Translation: AAI03702.1 BC103702 mRNA Translation: AAI03703.1 BC105693 mRNA Translation: AAI05694.1 BC105694 mRNA Translation: AAI05695.1 BC110800 mRNA Translation: AAI10801.1 |
CCDSi | CCDS35430.1 [Q3ZAQ7-1] CCDS87789.1 [Q3ZAQ7-2] |
RefSeqi | NP_001017980.1, NM_001017980.3 [Q3ZAQ7-1] XP_011529427.1, XM_011531125.2 |
Genome annotation databases
Ensembli | ENST00000330374; ENSP00000333255; ENSG00000160131 [Q3ZAQ7-1] ENST00000370361; ENSP00000359386; ENSG00000160131 [Q3ZAQ7-2] |
GeneIDi | 203547 |
KEGGi | hsa:203547 |
UCSCi | uc004feu.4, human [Q3ZAQ7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK096835 mRNA Translation: BAG53371.1 AF003627 Genomic DNA No translation available. BC103701 mRNA Translation: AAI03702.1 BC103702 mRNA Translation: AAI03703.1 BC105693 mRNA Translation: AAI05694.1 BC105694 mRNA Translation: AAI05695.1 BC110800 mRNA Translation: AAI10801.1 |
CCDSi | CCDS35430.1 [Q3ZAQ7-1] CCDS87789.1 [Q3ZAQ7-2] |
RefSeqi | NP_001017980.1, NM_001017980.3 [Q3ZAQ7-1] XP_011529427.1, XM_011531125.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 128477, 84 interactors |
IntActi | Q3ZAQ7, 46 interactors |
STRINGi | 9606.ENSP00000333255 |
PTM databases
iPTMneti | Q3ZAQ7 |
PhosphoSitePlusi | Q3ZAQ7 |
Genetic variation databases
BioMutai | VMA21 |
DMDMi | 121943063 |
Proteomic databases
EPDi | Q3ZAQ7 |
jPOSTi | Q3ZAQ7 |
MassIVEi | Q3ZAQ7 |
MaxQBi | Q3ZAQ7 |
PaxDbi | Q3ZAQ7 |
PeptideAtlasi | Q3ZAQ7 |
PRIDEi | Q3ZAQ7 |
ProteomicsDBi | 61901 [Q3ZAQ7-1] 61902 [Q3ZAQ7-2] |
TopDownProteomicsi | Q3ZAQ7-1 [Q3ZAQ7-1] Q3ZAQ7-2 [Q3ZAQ7-2] |
Protocols and materials databases
Antibodypediai | 534, 73 antibodies |
DNASUi | 203547 |
Genome annotation databases
Ensembli | ENST00000330374; ENSP00000333255; ENSG00000160131 [Q3ZAQ7-1] ENST00000370361; ENSP00000359386; ENSG00000160131 [Q3ZAQ7-2] |
GeneIDi | 203547 |
KEGGi | hsa:203547 |
UCSCi | uc004feu.4, human [Q3ZAQ7-1] |
Organism-specific databases
CTDi | 203547 |
DisGeNETi | 203547 |
GeneCardsi | VMA21 |
HGNCi | HGNC:22082, VMA21 |
HPAi | ENSG00000160131, Low tissue specificity |
MalaCardsi | VMA21 |
MIMi | 300913, gene 310440, phenotype |
neXtProti | NX_Q3ZAQ7 |
OpenTargetsi | ENSG00000160131 |
Orphaneti | 25980, X-linked myopathy with excessive autophagy |
PharmGKBi | PA164727498 |
VEuPathDBi | HostDB:ENSG00000160131.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4783, Eukaryota |
GeneTreei | ENSGT00390000017980 |
HOGENOMi | CLU_143588_0_0_1 |
InParanoidi | Q3ZAQ7 |
OMAi | WNEGTPK |
OrthoDBi | 1603333at2759 |
PhylomeDBi | Q3ZAQ7 |
TreeFami | TF314021 |
Enzyme and pathway databases
PathwayCommonsi | Q3ZAQ7 |
Miscellaneous databases
BioGRID-ORCSi | 203547, 113 hits in 634 CRISPR screens |
ChiTaRSi | VMA21, human |
GenomeRNAii | 203547 |
Pharosi | Q3ZAQ7, Tdark |
PROi | PR:Q3ZAQ7 |
RNActi | Q3ZAQ7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160131, Expressed in substantia nigra and 219 other tissues |
Genevisiblei | Q3ZAQ7, HS |
Family and domain databases
HAMAPi | MF_03058, VMA21, 1 hit |
InterProi | View protein in InterPro IPR019013, Vma21 |
PANTHERi | PTHR31792, PTHR31792, 1 hit |
Pfami | View protein in Pfam PF09446, VMA21, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | VMA21_HUMAN | |
Accessioni | Q3ZAQ7Primary (citable) accession number: Q3ZAQ7 Secondary accession number(s): A6NKV7, B3KUA9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 29, 2008 |
Last sequence update: | September 27, 2005 | |
Last modified: | April 7, 2021 | |
This is version 122 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families