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Protein

Vacuolar ATPase assembly integral membrane protein VMA21

Gene

VMA21

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.UniRule annotation1 Publication

GO - Biological processi

  • regulation of ATPase activity Source: ParkinsonsUK-UCL
  • vacuolar proton-transporting V-type ATPase complex assembly Source: ParkinsonsUK-UCL

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar ATPase assembly integral membrane protein VMA21UniRule annotation
Alternative name(s):
Myopathy with excessive autophagy protein
Gene namesi
Name:VMA21UniRule annotation
Synonyms:MEAX, XMEA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000160131.13.
HGNCiHGNC:22082. VMA21.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 25CytoplasmicUniRule annotationAdd BLAST25
Transmembranei26 – 46HelicalUniRule annotationAdd BLAST21
Topological domaini47 – 65LumenalUniRule annotationAdd BLAST19
Transmembranei66 – 86HelicalUniRule annotationAdd BLAST21
Topological domaini87 – 101CytoplasmicUniRule annotationAdd BLAST15

Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Myopathy, X-linked, with excessive autophagy (MEAX)4 Publications
The disease is caused by mutations 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.
See also OMIM:310440

Organism-specific databases

DisGeNETi203547.
MalaCardsiVMA21.
MIMi310440. phenotype.
OpenTargetsiENSG00000160131.
Orphaneti25980. X-linked myopathy with excessive autophagy.
PharmGKBiPA164727498.

Polymorphism and mutation databases

BioMutaiVMA21.
DMDMi121943063.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003314991 – 101Vacuolar ATPase assembly integral membrane protein VMA21Add BLAST101

Proteomic databases

EPDiQ3ZAQ7.
MaxQBiQ3ZAQ7.
PaxDbiQ3ZAQ7.
PeptideAtlasiQ3ZAQ7.
PRIDEiQ3ZAQ7.
TopDownProteomicsiQ3ZAQ7-1. [Q3ZAQ7-1]
Q3ZAQ7-2. [Q3ZAQ7-2]

PTM databases

iPTMnetiQ3ZAQ7.
PhosphoSitePlusiQ3ZAQ7.

Expressioni

Gene expression databases

BgeeiENSG00000160131.
GenevisibleiQ3ZAQ7. HS.

Organism-specific databases

HPAiHPA010972.

Interactioni

Subunit structurei

Associates with the V0 complex of the vacuolar ATPase (V-ATPase).

Protein-protein interaction databases

BioGridi128477. 35 interactors.
IntActiQ3ZAQ7. 9 interactors.
STRINGi9606.ENSP00000333255.

Structurei

3D structure databases

ProteinModelPortaliQ3ZAQ7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the VMA21 family.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4783. Eukaryota.
ENOG411241C. LUCA.
GeneTreeiENSGT00390000017980.
HOGENOMiHOG000154822.
InParanoidiQ3ZAQ7.
OMAiYRAYFGG.
OrthoDBiEOG091G1BQC.
PhylomeDBiQ3ZAQ7.
TreeFamiTF314021.

Family and domain databases

HAMAPiMF_03058. VMA21. 1 hit.
InterProiView protein in InterPro
IPR019013. Vma21.
PANTHERiPTHR31792. PTHR31792. 1 hit.
PfamiView protein in Pfam
PF09446. VMA21. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q3ZAQ7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MERPDKAALN ALQPPEFRNE SSLASTLKTL LFFTALMITV PIGLYFTTKS
60 70 80 90 100
YIFEGALGMS NRDSYFYAAI VAVVAVHVVL ALFVYVAWNE GSRQWREGKQ

D
Length:101
Mass (Da):11,354
Last modified:September 27, 2005 - v1
Checksum:i9DE436A7FF533443
GO
Isoform 2 (identifier: Q3ZAQ7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MERPDKAALNALQPPEF → MLGSPCGPQL...LAGRTPRSHR

Note: No experimental confirmation available.
Show »
Length:156
Mass (Da):17,766
Checksum:i8A3F475CD071D5BC
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0412571 – 17MERPD…QPPEF → MLGSPCGPQLSDRDADEDQC SREFRGRRSRRPPRRTMLRG KSRLNVEWLGYSPGLLLEHR PLLAGRTPRSHR in isoform 2. CuratedAdd BLAST17

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.
CCDSiCCDS35430.1. [Q3ZAQ7-1]
RefSeqiNP_001017980.1. NM_001017980.3. [Q3ZAQ7-1]
XP_011529427.1. XM_011531125.2. [Q3ZAQ7-2]
UniGeneiHs.58633.

Genome annotation databases

EnsembliENST00000330374; ENSP00000333255; ENSG00000160131. [Q3ZAQ7-1]
ENST00000370361; ENSP00000359386; ENSG00000160131. [Q3ZAQ7-2]
GeneIDi203547.
KEGGihsa:203547.
UCSCiuc004feu.4. human. [Q3ZAQ7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiVMA21_HUMAN
AccessioniPrimary (citable) accession number: Q3ZAQ7
Secondary accession number(s): A6NKV7, B3KUA9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: September 27, 2005
Last modified: October 25, 2017
This is version 101 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families