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    Atp6v1a ATPase, H+ transporting, lysosomal V1 subunit A [ Mus musculus (house mouse) ]

    Gene ID: 11964, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Atp6v1aprovided by MGI
    Official Full Name
    ATPase, H+ transporting, lysosomal V1 subunit Aprovided by MGI
    Primary source
    MGI:MGI:1201780
    See related
    Ensembl:ENSMUSG00000052459 AllianceGenome:MGI:1201780
    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
    VA68; VPP2; Atp6a1; Atp6a2; Atp6v1a1
    Summary
    Enables proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Located in apical plasma membrane; cytosol; and microvillus. Part of proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and developmental and epileptic encephalopathy 93. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in cerebellum adult (RPKM 59.0), frontal lobe adult (RPKM 52.8) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atp6v1a in Genome Data Viewer
    Location:
    16 B4; 16 28.44 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (43905765..43960055, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (44085402..44139702, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46552 Neighboring gene GRAM domain containing 1C Neighboring gene STARR-seq mESC enhancer starr_40889 Neighboring gene microRNA 3470b Neighboring gene STARR-seq mESC enhancer starr_40890 Neighboring gene STARR-seq mESC enhancer starr_40891 Neighboring gene STARR-seq mESC enhancer starr_40894 Neighboring gene STARR-seq mESC enhancer starr_40895 Neighboring gene STARR-positive B cell enhancer ABC_E9932 Neighboring gene STARR-seq mESC enhancer starr_40896 Neighboring gene N(alpha)-acetyltransferase 50, NatE catalytic subunit Neighboring gene STARR-positive B cell enhancer ABC_E11613 Neighboring gene STARR-positive B cell enhancer ABC_E2462 Neighboring gene upstream transcription factor family member 3

    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. AMP-activated protein kinase regulates the vacuolar H+-ATPase via direct phosphorylation of the A subunit (ATP6V1A) in the kidney. Alzamora R, et al. Am J Physiol Renal Physiol, 2013 Oct 1. PMID 23863464, Free PMC Article
    2. Resorption-cycle-dependent polarization of mRNAs for different subunits of V-ATPase in bone-resorbing osteoclasts. Laitala-Leinonen T, et al. Mol Biol Cell, 1996 Jan. PMID 8741845, Free PMC Article
    3. a4, a unique kidney-specific isoform of mouse vacuolar H+-ATPase subunit a. Oka T, et al. J Biol Chem, 2001 Oct 26. PMID 11498539
    4. PKA regulates vacuolar H+-ATPase localization and activity via direct phosphorylation of the a subunit in kidney cells. Alzamora R, et al. J Biol Chem, 2010 Aug 6. PMID 20525692, Free PMC Article
    5. The forkhead transcription factor Foxi1 is a master regulator of vacuolar H-ATPase proton pump subunits in the inner ear, kidney and epididymis. Vidarsson H, et al. PLoS One, 2009. PMID 19214237, Free PMC Article

    See all (52) 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 (4) 
    • Gene trapped (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

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables proton-transporting ATP synthase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables proton-transporting ATPase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables proton-transporting ATPase activity, rotational mechanism IMP
    Inferred from Mutant Phenotype
    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 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 proton motive force-driven ATP synthesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proton transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    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 
    Component Evidence Code Pubs
    part_of ATPase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extrinsic component of synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extrinsic component of synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HDA PubMed 
    located_in myelin sheath HDA PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of proton-transporting V-type ATPase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of proton-transporting V-type ATPase, V1 domain IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in secretory granule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in secretory granule ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of vacuolar proton-transporting V-type ATPase, V1 domain ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of vacuolar proton-transporting V-type ATPase, V1 domain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    V-type proton ATPase catalytic subunit A
    Names
    70-kDa subunit
    ATPase, H+ transporting, V1 subunit A
    ATPase, H+ transporting, V1 subunit A1
    ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha 70 kDa
    ATPase, H+ transporting, lysosomal 70kD, V1 subunit A
    V-ATPase 69 kDa subunit
    V-ATPase subunit A
    lysosomal 70kDa
    vacuolar proton pump subunit alpha
    NP_001345132.1
    NP_001345133.1
    NP_001400404.1
    NP_001400405.1
    NP_001400406.1
    NP_031534.2

    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_001358203.1 → NP_001345132.1  V-type proton ATPase catalytic subunit A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC125098
      Consensus CDS
      CCDS28182.1
      UniProtKB/Swiss-Prot
      P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2
      Conserved Domains (1) summary
      TIGR01042
      Location:17 → 609
      V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit

    2. NM_001358204.1 → NP_001345133.1  V-type proton ATPase catalytic subunit A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC125098
      Consensus CDS
      CCDS28182.1
      UniProtKB/Swiss-Prot
      P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2
      Related
      ENSMUSP00000066886.7, ENSMUST00000063661.13
      Conserved Domains (1) summary
      TIGR01042
      Location:17 → 609
      V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit

    3. NM_001413475.1 → NP_001400404.1  V-type proton ATPase catalytic subunit A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC125098
      UniProtKB/Swiss-Prot
      P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2

    4. NM_001413476.1 → NP_001400405.1  V-type proton ATPase catalytic subunit A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC125098
      UniProtKB/Swiss-Prot
      P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2

    5. NM_001413477.1 → NP_001400406.1  V-type proton ATPase catalytic subunit A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC125098

    6. NM_007508.6 → NP_031534.2  V-type proton ATPase catalytic subunit A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC125098
      Consensus CDS
      CCDS28182.1
      UniProtKB/Swiss-Prot
      P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2
      Related
      ENSMUSP00000110314.3, ENSMUST00000114666.9
      Conserved Domains (1) summary
      TIGR01042
      Location:17 → 609
      V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      43905765..43960055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50516.2 GenPept UniProtKB/Swiss-Prot:P50516

    Gene LinkOut

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