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    VMA21 vacuolar ATPase assembly factor VMA21 [ Homo sapiens (human) ]

    Gene ID: 203547, updated on 27-Nov-2024

    Summary

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    Official Symbol
    VMA21provided by HGNC
    Official Full Name
    vacuolar ATPase assembly factor VMA21provided by HGNC
    Primary source
    HGNC:HGNC:22082
    See related
    Ensembl:ENSG00000160131 MIM:300913; AllianceGenome:HGNC:22082
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MEAX; XMEA
    Summary
    This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in brain (RPKM 10.4), thyroid (RPKM 7.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VMA21 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (151396595..151409364)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (149664671..149677438)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (150565067..150577836)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene GPR50 antisense RNA 1 Neighboring gene G protein-coupled receptor 50 Neighboring gene VISTA enhancer hs1746 Neighboring gene NAB1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30027 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:150585487-150586686 Neighboring gene uncharacterized LOC105373367 Neighboring gene uncharacterized LOC105377213 Neighboring gene PAS domain containing repressor 1 Neighboring gene MPRA-validated peak7436 silencer Neighboring gene MPRA-validated peak7437 silencer

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Saviranta P, et al. Am J Hum Genet, 1988 Jan. PMID 2892402, Free PMC Article
    2. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Villard L, et al. Eur J Hum Genet, 2000 Feb. PMID 10757644
    3. X-linked vacuolar myopathies: two separate loci and refined genetic mapping. Auranen M, et al. Ann Neurol, 2000 May. PMID 10805342
    4. Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency. Wang F, et al. Autophagy, 2022 Aug. PMID 35287545, Free PMC Article
    5. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. Sugie K, et al. J Neuropathol Exp Neurol, 2005 Jun. PMID 15977643

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
      Title: Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
    2. Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.
      Title: Follicular lymphoma-associated mutations in the V-ATPase chaperone VMA21 activate autophagy creating a targetable dependency.
    3. Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma cells via targeting miR-525-5p/VMA21 axis.
      Title: Hsa_circ_0001361 facilitates the progress of lung adenocarcinoma cells via targeting miR-525-5p/VMA21 axis.
    4. circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4 axis.
      Title: circ_VMA21 protects WI-38 cells against LPS-induced apoptotic and inflammatory injury by acting on the miR-409-3p/KLF4 axis.
    5. Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
      Title: Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
    6. Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
      Title: Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
    7. lncRNA ZFPM2-AS1 promotes proliferation via miR-18b-5p/VMA21 axis in lung adenocarcinoma.
      Title: lncRNA ZFPM2-AS1 promotes proliferation via miR-18b-5p/VMA21 axis in lung adenocarcinoma.
    8. A Japanese family afflicted by X-linked myopathy with excessive autophagy displayed high urinary beta2 microglobulin without renal dysfunction. Decreased urine acidification in the distal convoluted tubules might be caused by the VMA21 gene mutation.
      Title: Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
    9. This study showed that LOC203547 is the human ortholog of Vma21p, and that hypomorphic mutations of the VMA21 gene disrupt autophagy and cause -linked Myopathy with Excessive Autophagy.
      Title: VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    X-linked myopathy with excessive autophagy
    MedGen: C1839615 OMIM: 310440 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC125514, MGC125516, MGC131652

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of ATP-dependent activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in vacuolar proton-transporting V-type ATPase complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vacuolar proton-transporting V-type ATPase complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ER to Golgi transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    vacuolar ATPase assembly integral membrane protein VMA21
    Names
    VMA21 vacuolar H+-ATPase homolog
    VMA21, vacuolar ATPase assembly factor
    myopathy with excessive autophagy protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016761.1 RefSeqGene

      Range
      5001..17180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_860

    mRNA and Protein(s)

    1. NM_001017980.4 → NP_001017980.1  vacuolar ATPase assembly integral membrane protein VMA21 isoform 1

      See identical proteins and their annotated locations for NP_001017980.1

      Status: REVIEWED

      Source sequence(s)
      AF003627
      Consensus CDS
      CCDS35430.1
      UniProtKB/Swiss-Prot
      A6NKV7, B3KUA9, Q3ZAQ7
      Related
      ENSP00000333255.6, ENST00000330374.7
      Conserved Domains (1) summary
      pfam09446
      Location:25 → 67
      VMA21; VMA21-like domain

    2. NM_001363810.1 → NP_001350739.1  vacuolar ATPase assembly integral membrane protein VMA21 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AF003627
      Consensus CDS
      CCDS87789.1
      Related
      ENSP00000359386.1, ENST00000370361.5
      Conserved Domains (1) summary
      pfam09446
      Location:80 → 122
      VMA21; VMA21-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      151396595..151409364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      149664671..149677438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZAQ7.1 GenPept UniProtKB/Swiss-Prot:Q3ZAQ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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