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    Atp6v0a1 ATPase, H+ transporting, lysosomal V0 subunit A1 [ Mus musculus (house mouse) ]

    Gene ID: 11975, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Atp6v0a1provided by MGI
    Official Full Name
    ATPase, H+ transporting, lysosomal V0 subunit A1provided by MGI
    Primary source
    MGI:MGI:103286
    See related
    Ensembl:ENSMUSG00000019302 AllianceGenome:MGI:103286
    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
    Vpp1; Vpp-1; ATP6a1; Atp6n1; Atp6n1a; Atpv0a1
    Summary
    Predicted to enable ATPase binding activity. Involved in synaptic vesicle lumen acidification. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 104. Orthologous to human ATP6V0A1 (ATPase H+ transporting V0 subunit a1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 75.9), frontal lobe adult (RPKM 74.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atp6v0a1 in Genome Data Viewer
    Location:
    11 D; 11 64.04 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (100899262..100954545)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (101009422..101063719)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene signal transducer and activator of transcription 3 Neighboring gene STARR-positive B cell enhancer ABC_E5279 Neighboring gene STARR-seq mESC enhancer starr_30745 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:100800942-100801125 Neighboring gene predicted gene, 46295 Neighboring gene STARR-seq mESC enhancer starr_30746 Neighboring gene caveolae associated 1 Neighboring gene STARR-seq mESC enhancer starr_30750 Neighboring gene STARR-positive B cell enhancer ABC_E7064 Neighboring gene STARR-seq mESC enhancer starr_30751 Neighboring gene STARR-seq mESC enhancer starr_30752 Neighboring gene STARR-positive B cell enhancer ABC_E3023 Neighboring gene STARR-seq mESC enhancer starr_30753 Neighboring gene microRNA 6928 Neighboring gene STARR-positive B cell enhancer ABC_E10714 Neighboring gene STARR-positive B cell enhancer ABC_E8456 Neighboring gene alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) Neighboring gene hydroxysteroid (17-beta) dehydrogenase 1

    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. Coordination of microtubules and the actin cytoskeleton is important in osteoclast function, but calcitonin disrupts sealing zones without affecting microtubule networks. Okumura S, et al. Bone, 2006 Oct. PMID 16774853
    2. Sex-specific influence of the vacuolar adenosine triphosphatase a2 isoform on outcome in twin pregnancies. Sisti G, et al. Am J Reprod Immunol, 2019 Jan. PMID 30418688
    3. Observations From a Mouse Model of Forebrain Voa1 Knockout: Focus on Hippocampal Structure and Function. Ma K, et al. Front Cell Neurosci, 2019. PMID 31824264, Free PMC Article
    4. Modulation of V-ATPase by βA3/A1-Crystallin in Retinal Pigment Epithelial Cells. Valapala M, et al. Adv Exp Med Biol, 2016. PMID 26427489
    5. Golgi-associated LC3 lipidation requires V-ATPase in noncanonical autophagy. Gao Y, et al. Cell Death Dis, 2016 Aug 11. PMID 27512951, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Adipocytes control food intake and weight regain via Vacuolar-type H(+) ATPase.
      Title: Adipocytes control food intake and weight regain via Vacuolar-type H(+) ATPase.
    2. ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice.
      Title: ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice.
    3. this study shows sex-specific influence of the vacuolar adenosine triphosphatase a2 isoform on outcome in twin pregnancies
      Title: Sex-specific influence of the vacuolar adenosine triphosphatase a2 isoform on outcome in twin pregnancies.
    4. These results suggest that the Golgi complex may serve as a membrane platform for noncanonical autophagy where V-ATPase is a key player.
      Title: Golgi-associated LC3 lipidation requires V-ATPase in noncanonical autophagy.
    5. Data suggest a mechanism by which betaA3/A1-crystallin regulates lysosomal function by modulating the activity of V-ATPase.
      Title: Modulation of V-ATPase by βA3/A1-Crystallin in Retinal Pigment Epithelial Cells.
    6. demonstrated that CRYBA1 coimmunoprecipitates with the ATP6V0A1/V0-ATPase a1 subunit
      Title: Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/βA3/A1-crystallin via V-ATPase-MTORC1 signaling.
    7. V-ATPase membrane domain would allow the exocytotic machinery to discriminate fully loaded and acidified vesicles from vesicles undergoing neurotransmitter reloading.
      Title: The V-ATPase membrane domain is a sensor of granular pH that controls the exocytotic machinery.
    8. Immunolocalization demonstrated expression of all 'a' subunits in the proximal tubule and in the intercalated cells of the collecting system. PCR detected mRNAs encoding all four 'a' isoforms with a relative abundance in the following order: a4>a2=a1>a3.
      Title: Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6)  1 citation
    • Gene trapped (1) 
    • Targeted (3) 

    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 ATPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of macroautophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of macroautophagy ISO
    Inferred from Sequence Orthology
    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
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    located_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, V0 domain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    V-type proton ATPase 116 kDa subunit a 1
    Names
    ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1 (110/160 kDa)
    ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1A (110/160 kDa)
    ATPase, H+ transporting, lysosomal V0 subunit a
    V-ATPase 116 kDa subunit a 1
    V-ATPase 116 kDa subunit a1
    V-ATPase a1
    V-type proton ATPase 116 kDa subunit a
    V-type proton ATPase 116 kDa subunit a1
    clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit
    vacuolar adenosine triphosphatase subunit Ac116
    vacuolar proton pump subunit 1
    vacuolar proton translocating ATPase 116 kDa subunit a
    NP_001229978.1
    NP_001229979.1
    NP_001229980.1
    NP_001349565.1
    NP_001349566.1
    NP_001349567.1
    NP_001349568.1
    NP_001349569.1
    NP_001349570.1
    NP_001404275.1
    NP_001404276.1
    NP_001404277.1
    NP_001404278.1
    NP_001404279.1
    NP_001404280.1
    NP_058616.1
    XP_006532112.1
    XP_006532113.1
    XP_006532114.1

    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_001243049.3 → NP_001229978.1  V-type proton ATPase 116 kDa subunit a 1 isoform 2

      See identical proteins and their annotated locations for NP_001229978.1

      Status: VALIDATED

      Source sequence(s)
      AL591425
      UniProtKB/TrEMBL
      Q3TXT5, Q3TY98, Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:1 → 769
      V_ATPase_I; V-type ATPase 116kDa subunit family

    2. NM_001243050.3 → NP_001229979.1  V-type proton ATPase 116 kDa subunit a 1 isoform 3

      See identical proteins and their annotated locations for NP_001229979.1

      Status: VALIDATED

      Source sequence(s)
      AL591425
      Consensus CDS
      CCDS56809.1
      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Related
      ENSMUSP00000090333.4, ENSMUST00000092663.4
      Conserved Domains (2) summary
      COG1269
      Location:27 → 823
      NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
      pfam01496
      Location:28 → 822
      V_ATPase_I; V-type ATPase 116kDa subunit family

    3. NM_001243051.3 → NP_001229980.1  V-type proton ATPase 116 kDa subunit a 1 isoform 4

      See identical proteins and their annotated locations for NP_001229980.1

      Status: VALIDATED

      Source sequence(s)
      AL591425
      Consensus CDS
      CCDS56808.1
      UniProtKB/Swiss-Prot
      A2A5A1, Q9JHJ4, Q9JL13, Q9JL14, Q9Z1G4
      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Related
      ENSMUSP00000099399.4, ENSMUST00000103110.10
      Conserved Domains (2) summary
      COG1269
      Location:27 → 830
      NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
      pfam01496
      Location:28 → 829
      V_ATPase_I; V-type ATPase 116kDa subunit family

    4. NM_001362636.2 → NP_001349565.1  V-type proton ATPase 116 kDa subunit a 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL591425
      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:27 → 853
      V_ATPase_I; V-type ATPase 116kDa subunit family

    5. NM_001362637.2 → NP_001349566.1  V-type proton ATPase 116 kDa subunit a 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL591425
      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:27 → 835
      V_ATPase_I; V-type ATPase 116kDa subunit family

    6. NM_001362638.2 → NP_001349567.1  V-type proton ATPase 116 kDa subunit a 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL591425
      Consensus CDS
      CCDS25443.1
      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:27 → 828
      V_ATPase_I; V-type ATPase 116kDa subunit family

    7. NM_001362639.2 → NP_001349568.1  V-type proton ATPase 116 kDa subunit a 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL591425
      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:1 → 768
      V_ATPase_I; V-type ATPase 116kDa subunit family

    8. NM_001362640.2 → NP_001349569.1  V-type proton ATPase 116 kDa subunit a 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL591425
      UniProtKB/TrEMBL
      Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:27 → 669
      V_ATPase_I; V-type ATPase 116kDa subunit family

    9. NM_001362641.2 → NP_001349570.1  V-type proton ATPase 116 kDa subunit a 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL591425
      UniProtKB/TrEMBL
      Q99M55
      Conserved Domains (1) summary
      cl27549
      Location:27 → 221
      V_ATPase_I; V-type ATPase 116kDa subunit family

    10. NM_001417346.1 → NP_001404275.1  V-type proton ATPase 116 kDa subunit a 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL591425

    11. NM_001417347.1 → NP_001404276.1  V-type proton ATPase 116 kDa subunit a 1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL591425

    12. NM_001417348.1 → NP_001404277.1  V-type proton ATPase 116 kDa subunit a 1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL591425

    13. NM_001417349.1 → NP_001404278.1  V-type proton ATPase 116 kDa subunit a 1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AL591425

    14. NM_001417350.1 → NP_001404279.1  V-type proton ATPase 116 kDa subunit a 1 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AL591425

    15. NM_001417351.1 → NP_001404280.1  V-type proton ATPase 116 kDa subunit a 1 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AL591425

    16. NM_016920.5 → NP_058616.1  V-type proton ATPase 116 kDa subunit a 1 isoform 1

      See identical proteins and their annotated locations for NP_058616.1

      Status: VALIDATED

      Source sequence(s)
      AL591425
      Consensus CDS
      CCDS25443.1
      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Related
      ENSMUSP00000044838.7, ENSMUST00000044721.13
      Conserved Domains (1) summary
      pfam01496
      Location:27 → 828
      V_ATPase_I; V-type ATPase 116kDa subunit family

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      100899262..100954545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532049.4 → XP_006532112.1  V-type proton ATPase 116 kDa subunit a 1 isoform X1

      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:27 → 860
      V_ATPase_I; V-type ATPase 116kDa subunit family

    2. XM_006532051.4 → XP_006532114.1  V-type proton ATPase 116 kDa subunit a 1 isoform X3

      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:27 → 854
      V_ATPase_I; V-type ATPase 116kDa subunit family

    3. XM_006532050.4 → XP_006532113.1  V-type proton ATPase 116 kDa subunit a 1 isoform X2

      UniProtKB/TrEMBL
      Q3TXT5, Q6NXX6
      Conserved Domains (1) summary
      pfam01496
      Location:27 → 854
      V_ATPase_I; V-type ATPase 116kDa subunit family

    RNA

    1. XR_388335.3 RNA Sequence

    2. XR_388336.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z1G4.3 GenPept UniProtKB/Swiss-Prot:Q9Z1G4

    Gene LinkOut

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