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    Atp6v0d1 ATPase, H+ transporting, lysosomal V0 subunit D1 [ Mus musculus (house mouse) ]

    Gene ID: 11972, updated on 9-Dec-2024

    Summary

    Official Symbol
    Atp6v0d1provided by MGI
    Official Full Name
    ATPase, H+ transporting, lysosomal V0 subunit D1provided by MGI
    Primary source
    MGI:MGI:1201778
    See related
    Ensembl:ENSMUSG00000013160 AllianceGenome:MGI:1201778
    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
    P39; Ac39; VATX; Vma6; Atp6d
    Summary
    Contributes to proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Located in early endosome. Part of proton-transporting V-type ATPase, V0 domain. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; nervous system; and sensory organ. Used to study cardiomyopathy and lipodystrophy. Orthologous to human ATP6V0D1 (ATPase H+ transporting V0 subunit d1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 82.2), cerebellum adult (RPKM 80.8) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Atp6v0d1 in Genome Data Viewer
    Location:
    8 D3; 8 53.04 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (106251093..106292696, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (105524461..105566064, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene ferritin light chain 1 pseudogene Neighboring gene hydroxysteroid 11-beta dehydrogenase 2 Neighboring gene STARR-positive B cell enhancer ABC_E10519 Neighboring gene STARR-positive B cell enhancer ABC_E11395 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:108090885-108090994 Neighboring gene predicted gene, 38250 Neighboring gene agouti related neuropeptide Neighboring gene predicted gene 45855

    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

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5)  1 citation
    • Gene trapped (1) 
    • Targeted (3) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to proton-transporting ATPase activity, rotational mechanism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to increased oxygen levels ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to increased oxygen levels ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular iron ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular iron ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic vesicle lumen acidification EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in synaptic vesicle lumen acidification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synaptic vesicle lumen acidification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vacuolar acidification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vacuolar transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axon terminus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon terminus ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of plasma membrane proton-transporting V-type ATPase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of proton-transporting V-type ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of proton-transporting V-type ATPase, V0 domain IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of vacuolar proton-transporting V-type ATPase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of vacuolar proton-transporting V-type ATPase complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of vacuolar proton-transporting V-type ATPase, V0 domain ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    V-type proton ATPase subunit d 1
    Names
    ATPase, H+ transporting, V0 subunit D
    ATPase, H+ transporting, lysosomal (vacuolar proton pump), 42 kDa
    ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D
    V-ATPase 40 kDa accessory protein
    V-ATPase AC39 subunit
    V-ATPase subunit d 1
    lysosomal 38kDa
    physophilin
    vacuolar proton pump subunit d 1
    NP_038505.2

    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_013477.4NP_038505.2  V-type proton ATPase subunit d 1

      See identical proteins and their annotated locations for NP_038505.2

      Status: VALIDATED

      Source sequence(s)
      AC151573, AK083372, CD776853
      Consensus CDS
      CCDS22604.1
      UniProtKB/Swiss-Prot
      P51863, Q54A57, Q9QWJ2
      UniProtKB/TrEMBL
      Q921S5
      Related
      ENSMUSP00000013304.7, ENSMUST00000013304.8

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      106251093..106292696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)