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

Gene ID: 11975, updated on 2-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 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

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