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    Vma21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) [ Mus musculus (house mouse) ]

    Gene ID: 67048, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Vma21provided by MGI
    Official Full Name
    VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)provided by MGI
    Primary source
    MGI:MGI:1914298
    See related
    Ensembl:ENSMUSG00000073131 AllianceGenome:MGI:1914298
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2610030H06Rik
    Summary
    Predicted to be involved in vacuolar proton-transporting V-type ATPase complex assembly. Predicted to be located in lysosome. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including diaphragm; heart; liver; lung; and triceps surae muscle. Human ortholog(s) of this gene implicated in X-linked myopathy with excessive autophagy. Orthologous to human VMA21 (vacuolar ATPase assembly factor VMA21). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 7.2), cerebellum adult (RPKM 5.9) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Vma21 in Genome Data Viewer
    Location:
    X A7.3; X 37.07 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (70856368..70868312)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (71812752..71824706)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene G-protein-coupled receptor 50 Neighboring gene STARR-seq mESC enhancer starr_47326 Neighboring gene ribosomal protein L30, pseudogene 10 Neighboring gene PAS domain containing repressor 1 Neighboring gene proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis. Cocchiararo I, et al. Hum Mol Genet, 2023 Dec 1. PMID 37756622, Free PMC Article
    2. USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities. Liu C, et al. Sci Adv, 2023 May 19. PMID 37196079, Free PMC Article
    3. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    vacuolar ATPase assembly integral membrane protein Vma21

    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.

    mRNA and Protein(s)

    1. NM_001081356.3 → NP_001074825.1  vacuolar ATPase assembly integral membrane protein Vma21 isoform 2

      See identical proteins and their annotated locations for NP_001074825.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK164163, AL807394, BG143407, CJ071023, CX564875
      Consensus CDS
      CCDS41000.1
      UniProtKB/Swiss-Prot
      Q3UUC3, Q78T54
      Related
      ENSMUSP00000110223.3, ENSMUST00000114576.9
      Conserved Domains (1) summary
      pfam09446
      Location:26 → 88
      VMA21; VMA21-like domain

    2. NM_001290780.1 → NP_001277709.1  vacuolar ATPase assembly integral membrane protein Vma21 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL807394
      Consensus CDS
      CCDS72389.1
      UniProtKB/TrEMBL
      F2Z447
      Related
      ENSMUSP00000110222.4, ENSMUST00000114575.4
      Conserved Domains (1) summary
      pfam09446
      Location:59 → 121
      VMA21; VMA21-like domain

    3. NM_001290781.1 → NP_001277710.1  vacuolar ATPase assembly integral membrane protein Vma21 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA015086, AK164163, AL807394, BG143407, CJ137757, CX564875
      Consensus CDS
      CCDS72388.1
      UniProtKB/TrEMBL
      F2Z446
      Related
      ENSMUSP00000110224.2, ENSMUST00000114577.8
      Conserved Domains (1) summary
      pfam09446
      Location:45 → 107
      VMA21; VMA21-like domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      70856368..70868312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528261.5 → XP_006528324.1  vacuolar ATPase assembly integral membrane protein Vma21 isoform X1

      Conserved Domains (1) summary
      pfam09446
      Location:86 → 148
      VMA21; VMA21-like domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q78T54.1 GenPept UniProtKB/Swiss-Prot:Q78T54

    Gene LinkOut

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

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