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

    Gene ID: 67048, updated on 9-Dec-2024

    Summary

    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. 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
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    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    vacuolar ATPase assembly integral membrane protein Vma21

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001081356.3NP_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:2688
      VMA21; VMA21-like domain
    2. NM_001290780.1NP_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:59121
      VMA21; VMA21-like domain
    3. NM_001290781.1NP_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:45107
      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_006528261.5XP_006528324.1  vacuolar ATPase assembly integral membrane protein Vma21 isoform X1

      Conserved Domains (1) summary
      pfam09446
      Location:86148
      VMA21; VMA21-like domain