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    ATP6V0A1 ATPase H+ transporting V0 subunit a1 [ Homo sapiens (human) ]

    Gene ID: 535, updated on 5-Aug-2018

    Summary

    Official Symbol
    ATP6V0A1provided by HGNC
    Official Full Name
    ATPase H+ transporting V0 subunit a1provided by HGNC
    Primary source
    HGNC:HGNC:865
    See related
    Ensembl:ENSG00000033627 MIM:192130; Vega:OTTHUMG00000180238
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    a1; Stv1; VPP1; Vph1; ATP6N1; ATP6N1A
    Summary
    This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 46.5), kidney (RPKM 12.3) and 23 other tissues See more
    Orthologs

    Genomic context

    See ATP6V0A1 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (42458844..42522579)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40610862..40674597)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene caveolae associated protein 1 Neighboring gene uncharacterized LOC102725238 Neighboring gene RNA, U7 small nuclear 97 pseudogene Neighboring gene microRNA 548at Neighboring gene microRNA 5010 Neighboring gene protein tyrosine phosphatase type IVA, member 2 pseudogene 1 Neighboring gene N-acetyl-alpha-glucosaminidase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
      Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Collecting duct acid secretion, conserved biosystem (from KEGG)
      Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystem (from KEGG)
      Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
    • Epithelial cell signaling in Helicobacter pylori infection, conserved biosystem (from KEGG)
      Epithelial cell signaling in Helicobacter pylori infection, conserved biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Insulin receptor recycling, organism-specific biosystem (from REACTOME)
      Insulin receptor recycling, organism-specific biosystemTriggered by acidification of the endosome, insulin dissociates from the receptor and is degraded. The receptor is dephosphorylated and re-integrated into the plasma membrane, ready to be activated a...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Iron uptake and transport, organism-specific biosystem (from REACTOME)
      Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
      Oxidative phosphorylation, organism-specific biosystem
      Oxidative phosphorylation
    • Oxidative phosphorylation, conserved biosystem (from KEGG)
      Oxidative phosphorylation, conserved biosystem
      Oxidative phosphorylation
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • ROS, RNS production in phagocytes, organism-specific biosystem (from REACTOME)
      ROS, RNS production in phagocytes, organism-specific biosystemThe first line of defense against infectious agents involves an active recruitment of phagocytes to the site of infection. Recruited cells include polymorhonuclear (PMN) leukocytes (i.e., neutrophils...
    • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
      Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Rheumatoid arthritis, conserved biosystem (from KEGG)
      Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
      Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Synaptic vesicle cycle, conserved biosystem (from KEGG)
      Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
      Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Tuberculosis, organism-specific biosystem (from KEGG)
      Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • Tuberculosis, conserved biosystem (from KEGG)
      Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
    • V-type ATPase, eukaryotes, organism-specific biosystem (from KEGG)
      V-type ATPase, eukaryotes, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
    • V-type ATPase, eukaryotes, conserved biosystem (from KEGG)
      V-type ATPase, eukaryotes, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
    • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
      Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
    • Vibrio cholerae infection, conserved biosystem (from KEGG)
      Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp781J1951

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    proton-transporting ATPase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP hydrolysis coupled proton transport IEA
    Inferred from Electronic Annotation
    more info
     
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    toxin transport IEA
    Inferred from Electronic Annotation
    more info
     
    transferrin transport TAS
    Traceable Author Statement
    more info
     
    vacuolar acidification IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    vacuolar acidification TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lysosomal membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    vacuolar proton-transporting V-type ATPase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    vacuolar proton-transporting V-type ATPase, V0 domain IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    V-type proton ATPase 116 kDa subunit a isoform 1; V-type proton ATPase 116 kDa subunit a
    Names
    ATPase, H+ transporting, lysosomal V0 subunit a1
    ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)
    H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1
    V-ATPase 116 kDa
    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
    vacuolar-type H(+)-ATPase 115 kDa subunit
    NP_001123492.1
    NP_001123493.1
    NP_005168.2
    XP_005257516.1
    XP_005257518.1
    XP_005257520.1
    XP_011523210.1
    XP_016880258.1
    XP_016880259.1
    XP_016880260.1
    XP_016880261.1
    XP_016880262.1
    XP_016880263.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_047037.1 RefSeqGene

      Range
      5001..68736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130020.1NP_001123492.1  V-type proton ATPase 116 kDa subunit a isoform 1 isoform a

      See identical proteins and their annotated locations for NP_001123492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK223554, BC032398, BX648978, L78933
      Consensus CDS
      CCDS45683.1
      UniProtKB/Swiss-Prot
      Q93050
      UniProtKB/TrEMBL
      Q53ET5, Q53X12, Q5CZH6
      Related
      ENSP00000264649.5, OTTHUMP00000263716, ENST00000264649.10, OTTHUMT00000450362
      Conserved Domains (1) summary
      pfam01496
      Location:27828
      V_ATPase_I; V-type ATPase 116kDa subunit family
    2. NM_001130021.1NP_001123493.1  V-type proton ATPase 116 kDa subunit a isoform 1 isoform b

      See identical proteins and their annotated locations for NP_001123493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction and contains an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC032398, L78933
      Consensus CDS
      CCDS45684.1
      UniProtKB/Swiss-Prot
      Q93050
      UniProtKB/TrEMBL
      Q53X12
      Related
      ENSP00000342951.3, OTTHUMP00000263718, ENST00000343619.8, OTTHUMT00000450364
      Conserved Domains (1) summary
      pfam01496
      Location:27827
      V_ATPase_I; V-type ATPase 116kDa subunit family
    3. NM_005177.3NP_005168.2  V-type proton ATPase 116 kDa subunit a isoform 1 isoform c

      See identical proteins and their annotated locations for NP_005168.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC032398, L78933
      Consensus CDS
      CCDS11426.1
      UniProtKB/Swiss-Prot
      Q93050
      UniProtKB/TrEMBL
      Q53X12
      Related
      ENSP00000377415.2, OTTHUMP00000263713, ENST00000393829.6, OTTHUMT00000450358
      Conserved Domains (1) summary
      pfam01496
      Location:27821
      V_ATPase_I; V-type ATPase 116kDa subunit family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      42458844..42522579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257461.2XP_005257518.1  V-type proton ATPase 116 kDa subunit a isoform X4

      Conserved Domains (1) summary
      pfam01496
      Location:28760
      V_ATPase_I; V-type ATPase 116kDa subunit family
    2. XM_011524908.2XP_011523210.1  V-type proton ATPase 116 kDa subunit a isoform X2

      Conserved Domains (2) summary
      COG1269
      Location:27793
      NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
      pfam01496
      Location:28792
      V_ATPase_I; V-type ATPase 116kDa subunit family
    3. XM_005257463.3XP_005257520.1  V-type proton ATPase 116 kDa subunit a isoform X5

      Conserved Domains (1) summary
      pfam01496
      Location:28754
      V_ATPase_I; V-type ATPase 116kDa subunit family
    4. XM_005257459.2XP_005257516.1  V-type proton ATPase 116 kDa subunit a isoform X1

      Conserved Domains (2) summary
      COG1269
      Location:27835
      NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
      pfam01496
      Location:28834
      V_ATPase_I; V-type ATPase 116kDa subunit family
    5. XM_017024770.1XP_016880259.1  V-type proton ATPase 116 kDa subunit a isoform X6

    6. XM_017024771.1XP_016880260.1  V-type proton ATPase 116 kDa subunit a isoform X7

    7. XM_017024769.1XP_016880258.1  V-type proton ATPase 116 kDa subunit a isoform X3

    8. XM_017024774.2XP_016880263.1  V-type proton ATPase 116 kDa subunit a isoform X9

    9. XM_017024772.2XP_016880261.1  V-type proton ATPase 116 kDa subunit a isoform X8

      Related
      ENSP00000446377.1, ENST00000544137.5
    10. XM_017024773.2XP_016880262.1  V-type proton ATPase 116 kDa subunit a isoform X8

    RNA

    1. XR_002958025.1 RNA Sequence

    2. XR_001752538.2 RNA Sequence

    3. XR_934483.3 RNA Sequence

    4. XR_934484.3 RNA Sequence

    5. XR_001752540.2 RNA Sequence

    6. XR_002958026.1 RNA Sequence

    7. XR_002958027.1 RNA Sequence

    8. XR_002958028.1 RNA Sequence

    9. XR_001752539.1 RNA Sequence

    10. XR_002958029.1 RNA Sequence

    11. XR_002958030.1 RNA Sequence

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