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ATP6AP1 ATPase H+ transporting accessory protein 1 [ Homo sapiens (human) ]

Gene ID: 537, updated on 17-Jun-2019

Summary

Official Symbol
ATP6AP1provided by HGNC
Official Full Name
ATPase H+ transporting accessory protein 1provided by HGNC
Primary source
HGNC:HGNC:868
See related
Ensembl:ENSG00000071553 MIM:300197
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
Summary
This gene encodes a component of a multisubunit enzyme 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 may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in brain (RPKM 59.1), thyroid (RPKM 48.0) and 25 other tissues See more
Orthologs

Genomic context

See ATP6AP1 in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154428669..154436516)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153656978..153664862)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1 like 1 Neighboring gene tafazzin Neighboring gene uncharacterized protein BC009467 Neighboring gene GDP dissociation inhibitor 1 Neighboring gene family with sequence similarity 50 member A Neighboring gene microRNA 6858

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ATP6AP1 by shRNA significantly inhibits HIV-1 replication in CD4+ T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies ATP6AP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

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)....
  • Hepatitis B, organism-specific biosystem (from KEGG)
    Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
  • 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
  • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
    Oxidative phosphorylation, organism-specific biosystem
    Oxidative phosphorylation
  • Oxidative phosphorylation, organism-specific biosystem (from WikiPathways)
    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...
  • 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...
  • 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

  • MGC129781

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
Rab GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
proton-transporting ATP synthase activity, rotational mechanism IEA
Inferred from Electronic Annotation
more info
 
proton-transporting ATPase activity, rotational mechanism IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to increased oxygen levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of organelle localization ISS
Inferred from Sequence or Structural Similarity
more info
 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
pH reduction ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of bone resorption ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of exocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of osteoclast development ISS
Inferred from Sequence or Structural Similarity
more info
 
proton transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
regulation of cellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

Preferred Names
V-type proton ATPase subunit S1
Names
ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1
ATPase, H+ transporting, lysosomal accessory protein 1
ATPase, H+ transporting, lysosomal interacting protein 1
H-ATPase subunit
V-ATPase Ac45 subunit
V-ATPase S1 accessory protein
V-ATPase subunit S1
epididymis secretory sperm binding protein
protein XAP-3
vacuolar proton pump subunit S1
NP_001174.2
XP_011529481.1

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_052807.1 RefSeqGene

    Range
    5001..12886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001183.6NP_001174.2  V-type proton ATPase subunit S1 precursor

    See identical proteins and their annotated locations for NP_001174.2

    Status: REVIEWED

    Source sequence(s)
    AK075284, AK289452
    Consensus CDS
    CCDS35451.1
    UniProtKB/Swiss-Prot
    Q15904
    Related
    ENSP00000358777.2, ENST00000369762.7
    Conserved Domains (1) summary
    pfam05827
    Location:321468
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    154428669..154436516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531179.1XP_011529481.1  V-type proton ATPase subunit S1 isoform X1

    See identical proteins and their annotated locations for XP_011529481.1

    UniProtKB/Swiss-Prot
    Q15904
    UniProtKB/TrEMBL
    A0A0C4DGX8
    Related
    ENSP00000482243.1, ENST00000619046.4
    Conserved Domains (1) summary
    pfam05827
    Location:232260
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)
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