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    ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 [ Homo sapiens ]

    Gene ID: 537, updated on 19-May-2012
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    Summary

    Official Symbol
    ATP6AP1provided by HGNC
    Official Full Name
    ATPase, H+ transporting, lysosomal accessory protein 1provided by HGNC
    Primary source
    HGNC:868
    Locus tag
    XX-FW83563B9.4
    See related
    Ensembl:ENSG00000071553; HPRD:02184; MIM:300197; Vega:OTTHUMG00000033291
    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
    16A; CF2; Ac45; XAP3; XAP-3; ATP6S1; VATPS1; ATP6IP1; MGC129781
    Summary
    This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene is approximately 45 kD and may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    Xq28
    Sequence :
    Chromosome: X; NC_000023.10 (153656978..153664862)
    See ATP6AP1 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene deoxyribonuclease I-like 1 Neighboring gene tafazzin Neighboring gene GDP dissociation inhibitor 1 Neighboring gene family with sequence similarity 50, member A

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086.
    5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121.

    See all (29) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Experimental investigation of five specific genes, AP3B1, ATP6AP1, BLOC1S1, LAMP2, and RAB11A, has confirmed novel roles for these proteins in the proper initiation of macroautophagy in amino acid-starved fibroblasts.
      Title: Exploring the human genome with functional maps.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q15904 P03950 ANG    HPRD  PubMed  
    Q15904 P69905 HBA2    HPRD  PubMed  
    BioGRID:107019 BioGRID:106780 ANG    BioGRID  PubMed Two-hybrid 
    BioGRID:107019 BioGRID:109289 HBA1    BioGRID  PubMed Two-hybrid 
    BioGRID:107019 BioGRID:124085 SYVN1    BioGRID  PubMed Biochemical Activity 
    BioGRID:107019 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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)....
    • 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
    • Oxidative phosphorylation, organism-specific biosystem (from WikiPathways)
      Oxidative phosphorylation, organism-specific biosystem
      Oxidative phosphorylation
    • 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...
    • 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...
    • 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, ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    hydrogen ion transporting ATP synthase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    ATP hydrolysis coupled proton transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    aging IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    proton transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    proton-transporting V-type ATPase, V1 domain IEA
    Inferred from Electronic Annotation
    more info
    		  
    proton-transporting two-sector ATPase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    vacuole IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    V-type proton ATPase subunit S1
    Names
    V-type proton ATPase subunit S1
    protein XAP-3
    H-ATPase subunit
    V-ATPase subunit S1
    V-ATPase Ac45 subunit
    V-ATPase S1 accessory protein
    vacuolar proton pump subunit S1
    ATPase, H+ transporting, lysosomal interacting protein 1
    ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1
    NP_001174.2
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    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.

    mRNA and Protein(s)

    1. NM_001183.4 → NP_001174.2  V-type proton ATPase subunit S1 precursor

      Status: REVIEWED

      Source sequence(s)
      AL136851, BC000724, BX461330, DA921677
      Consensus CDS
      CCDS35451.1
      UniProtKB/Swiss-Prot
      Q15904
      UniProtKB/TrEMBL
      Q9H0C7
      Related
      ENSP00000358777, OTTHUMP00000032115, ENST00000369762, OTTHUMT00000081639
      Conserved Domains (1) summary
      pfam05827
      Location:44 – 222
      Blast Score: 316
      ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      153656978..153664862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      142234564..142269596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic BX936347.3 (31208..37438) None
    genomic BX936385.6 (1999..3652) None
    genomic CH471172.2 EAW72712.1
      EAW72713.1
      EAW72714.1
      EAW72715.1
    mRNA AK026519.1 None
    mRNA AK075284.1 BAC11520.1
    mRNA AK090462.1 BAC03443.1
    mRNA AK091083.1 BAG52282.1
    mRNA AK130616.1 None
    mRNA AK289452.1 BAF82141.1
    mRNA AK301603.1 BAG63090.1
    mRNA AL136851.1 CAB66785.1
    mRNA BC000724.2 AAH00724.1
    mRNA BC109247.1 None
    mRNA BX461330.2 None
    mRNA D16469.1 BAA03938.1
    mRNA DA921677.1 None
    mRNA X87195.1 None
    other-genetic AM392567.1 CAL37445.1
    other-genetic AM393312.1 CAL38190.1
    other-genetic AM393872.1 CAL38747.1
    other-genetic DQ892139.2 ABM83065.1
    other-genetic DQ895333.2 ABM86259.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15904.2 GenPept UniProtKB/Swiss-Prot:Q15904
    Q8NBT4 GenPept UniProtKB/TrEMBL:Q8NBT4
    Q8NF19 GenPept UniProtKB/TrEMBL:Q8NF19
    Q9H0C7 GenPept UniProtKB/TrEMBL:Q9H0C7
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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      Supplemental Content

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