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

Summary

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, Dec 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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW108110 (e-PCR)
- UniSTS:181301

AI316502 (e-PCR)
- UniSTS:160886

BB201969 (e-PCR)
- UniSTS:209527

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

EC 7.1.2.2

NP_001345309.1

EC 7.1.2.2

NP_001413171.1

EC 7.1.2.2

NP_001413172.1

EC 7.1.2.2

NP_061264.1

EC 7.1.2.2

XP_036017913.1

EC 7.1.2.2

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)

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

Status: VALIDATED

Source sequence(s)

AL807376

UniProtKB/TrEMBL

Q3TT23, Q3UCY7
NM_001426243.1 → NP_001413172.1 V-type proton ATPase subunit S1 isoform 5

Status: VALIDATED

Source sequence(s)

AL807376
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

NR_189677.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL807376
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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

73340753..73348297

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)