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

Gene ID: 67048, updated on 12-Nov-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. 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, Nov 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 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

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