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Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 [ Mus musculus (house mouse) ]

Gene ID: 54411, updated on 2-Nov-2024

Summary

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Official Symbol
Atp6ap1provided by MGI
Official Full Name
ATPase, H+ transporting, lysosomal accessory protein 1provided by MGI
Primary source
MGI:MGI:109629
See related
Ensembl:ENSMUSG00000019087 AllianceGenome:MGI:109629
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
16A; CF2; AC45; C7-1; XAP-3; Atp6s1; VATPS1; Atp6ip1; mFLJ00383
Summary
Enables ATPase activator activity; small GTPase binding activity; and transporter activator activity. Involved in endosome to plasma membrane protein transport; osteoclast development; and synaptic vesicle lumen acidification. Is active in endosome membrane. Is expressed in integumental system; nervous system; sensory organ; and tail. Human ortholog(s) of this gene implicated in immunodeficiency 47. Orthologous to human ATP6AP1 (ATPase H+ transporting accessory protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary adult (RPKM 71.2), genital fat pad adult (RPKM 67.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Atp6ap1 in Genome Data Viewer
Location:
X A7.3; X 37.96 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (73340753..73348297)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (74297097..74304721)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1-like 1 Neighboring gene predicted gene 14846 Neighboring gene tafazzin, phospholipid-lysophospholipid transacylase Neighboring gene STARR-positive B cell enhancer ABC_E7694 Neighboring gene GDP dissociation inhibitor 1 Neighboring gene family with sequence similarity 50, member A Neighboring gene microRNA 7092

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. Targeted disruption of the mouse gene encoding the V-ATPase accessory subunit Ac45. Schoonderwoert VT, et al. Mol Membr Biol, 2002 Jan-Mar. PMID 11989824
  2. pH dependence and inhibition by extracellular calcium of proton currents via plasmalemmal vacuolar-type H+-ATPase in murine osteoclasts. Sakai H, et al. J Physiol, 2006 Oct 15. PMID 16901940, Free PMC Article
  3. Cytoplasmic terminus of vacuolar type proton pump accessory subunit Ac45 is required for proper interaction with V(0) domain subunits and efficient osteoclastic bone resorption. Feng H, et al. J Biol Chem, 2008 May 9. PMID 18227071, Free PMC Article
  4. The a3 isoform vacuolar type H⁺-ATPase promotes distant metastasis in the mouse B16 melanoma cells. Nishisho T, et al. Mol Cancer Res, 2011 Jul. PMID 21669964
  5. Versatile roles of V-ATPases accessory subunit Ac45 in osteoclast formation and function. Qin A, et al. PLoS One, 2011. PMID 22087256, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Silencing of Ac45 Simultaneously Inhibits Osteoclast-Mediated Bone Resorption and Attenuates Dendritic Cell-Mediated Inflammation through Impairing Acidification and Cathepsin K Secretion.
    Title: Silencing of Ac45 Simultaneously Inhibits Osteoclast-Mediated Bone Resorption and Attenuates Dendritic Cell-Mediated Inflammation through Impairing Acidification and Cathepsin K Secretion.
  2. V-ATPase a3 isoform mutations identified in osteopetrosis patients abolish its expression and disrupt osteoclast function.
    Title: V-ATPase a3 isoform mutations identified in osteopetrosis patients abolish its expression and disrupt osteoclast function.
  3. Peptidylglycine alpha-amidating mono-oxygenase serves as a luminal pH-sensor, regulating V-ATPase action by altering its assembly status in peptidergic cells.
    Title: A pH-sensitive luminal His-cluster promotes interaction of PAM with V-ATPase along the secretory and endocytic pathways of peptidergic cells.
  4. The mitochondrial H(+)-ATP synthase, by coupling the Warburg effect to anabolic metabolism, enables de-differentiation during the reprogramming of somatic cells to induced pluripotent stem cells.
    Title: The mitochondrial H(+)-ATP synthase and the lipogenic switch: new core components of metabolic reprogramming in induced pluripotent stem (iPS) cells.
  5. The essential role of Ac45 in osteoclast-mediated extracellular acidification and protease exocytosis, as well as the ability of Ac45 to guide lysosomal intracellular trafficking to the ruffled border, is demonstrated.
    Title: V-ATPase subunit ATP6AP1 (Ac45) regulates osteoclast differentiation, extracellular acidification, lysosomal trafficking, and protease exocytosis in osteoclast-mediated bone resorption.
  6. propose that, in addition to its canonical function in V-ATPase-mediated acidification, Ac45 plays versatile roles during osteoclast formation and function.
    Title: Versatile roles of V-ATPases accessory subunit Ac45 in osteoclast formation and function.
  7. These results suggest that a3 V-ATPase promotes distant metastasis of B16-F10 cells by creating acidic environments via proton secretion.
    Title: The a3 isoform vacuolar type H⁺-ATPase promotes distant metastasis in the mouse B16 melanoma cells.
  8. A point mutation within the a3 subunit, R740S, which is dominant negative for proton pumping and bone resorption, also uncouples proton pumping from ATP hydrolysis.
    Title: The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice.
  9. Disruption of vacuolar H+-ATPase a3-B2 subunit interaction inhibited osteoclast bone resorption.
    Title: Inhibition of osteoclast bone resorption by disrupting vacuolar H+-ATPase a3-B2 subunit interaction.
  10. role for furin in regulated secretion, particularly in intragranular acidification most likely due to impaired processing of Ac45
    Title: Role of furin in granular acidification in the endocrine pancreas: identification of the V-ATPase subunit Ac45 as a candidate substrate.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00383

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATPase activator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transporter activator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to increased oxygen levels ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to increased oxygen levels ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in endosome to plasma membrane protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular iron ion homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in intracellular iron ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in osteoclast development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
NOT involved_in proton-transporting V-type ATPase complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cellular pH IBA
Inferred from Biological aspect of Ancestor
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 
Component Evidence Code Pubs
located_in clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
part_of proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
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
  

General protein information

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Preferred Names
V-type proton ATPase subunit S1
Names
ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1
ATPase, H+ transporting, lysosomal interacting protein 1
V-ATPase Ac45 subunit
V-ATPase S1 accessory protein
V-ATPase subunit Ac45
V-ATPase subunit S1
protein C7-1
vacuolar H+ ATPase accessory subunit 1
vacuolar proton pump subunit S1
NP_001345304.1
NP_001345309.1
NP_001413171.1
NP_001413172.1
NP_061264.1
XP_036017913.1

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_001358375.2 → NP_001345304.1  V-type proton ATPase subunit S1 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AL807376
    UniProtKB/TrEMBL
    Q3THZ3, Q3TT23, Q3UCY7
    Conserved Domains (1) summary
    pfam05827
    Location:290 → 436
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

  2. NM_001358380.2 → NP_001345309.1  V-type proton ATPase subunit S1 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AL807376
    Consensus CDS
    CCDS90731.1
    UniProtKB/TrEMBL
    Q3TKX1, Q3UCY7
    Related
    ENSMUSP00000109808.4, ENSMUST00000114171.10
    Conserved Domains (1) summary
    pfam05827
    Location:315 → 394
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

  3. NM_001426242.1 → NP_001413171.1  V-type proton ATPase subunit S1 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AL807376

  4. NM_001426243.1 → NP_001413172.1  V-type proton ATPase subunit S1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL807376

  5. NM_018794.5 → NP_061264.1  V-type proton ATPase subunit S1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_061264.1

    Status: VALIDATED

    Source sequence(s)
    AL807376
    Consensus CDS
    CCDS30226.1
    UniProtKB/Swiss-Prot
    Q9R1Q9
    UniProtKB/TrEMBL
    Q3TT23, Q3TWN7, Q3UCY7
    Related
    ENSMUSP00000019231.6, ENSMUST00000019231.12
    Conserved Domains (1) summary
    pfam05827
    Location:414 → 442
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

RNA

  1. NR_189677.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL807376

  2. NR_189678.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL807376

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_000086.8 Reference GRCm39 C57BL/6J

    Range
    73340753..73348297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036162020.1 → XP_036017913.1  V-type proton ATPase subunit S1 isoform X1

    Conserved Domains (1) summary
    pfam05827
    Location:132 → 278
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9R1Q9.1 GenPept UniProtKB/Swiss-Prot:Q9R1Q9

Gene LinkOut

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