Atp6v0a1 ATPase, H+ transporting, lysosomal V0 subunit A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v0a1provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V0 subunit A1provided by MGI
Primary source: MGI:MGI:103286
See related: Ensembl:ENSMUSG00000019302 AllianceGenome:MGI:103286
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: Vpp1; Vpp-1; ATP6a1; Atp6n1; Atp6n1a; Atpv0a1
Summary: Predicted to enable ATPase binding activity. Involved in synaptic vesicle lumen acidification. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 104. Orthologous to human ATP6V0A1 (ATPase H+ transporting V0 subunit a1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in cortex adult (RPKM 75.9), frontal lobe adult (RPKM 74.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 64.04 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (100899262..100954545)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (101009422..101063719)

Chromosome 11 - NC_000077.7 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 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?

Adipocytes control food intake and weight regain via Vacuolar-type H(+) ATPase.
Title: Adipocytes control food intake and weight regain via Vacuolar-type H(+) ATPase.
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice.
Title: ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice.
this study shows sex-specific influence of the vacuolar adenosine triphosphatase a2 isoform on outcome in twin pregnancies
Title: Sex-specific influence of the vacuolar adenosine triphosphatase a2 isoform on outcome in twin pregnancies.
These results suggest that the Golgi complex may serve as a membrane platform for noncanonical autophagy where V-ATPase is a key player.
Title: Golgi-associated LC3 lipidation requires V-ATPase in noncanonical autophagy.
Data suggest a mechanism by which betaA3/A1-crystallin regulates lysosomal function by modulating the activity of V-ATPase.
Title: Modulation of V-ATPase by βA3/A1-Crystallin in Retinal Pigment Epithelial Cells.
demonstrated that CRYBA1 coimmunoprecipitates with the ATP6V0A1/V0-ATPase a1 subunit
Title: Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/βA3/A1-crystallin via V-ATPase-MTORC1 signaling.
V-ATPase membrane domain would allow the exocytotic machinery to discriminate fully loaded and acidified vesicles from vesicles undergoing neurotransmitter reloading.
Title: The V-ATPase membrane domain is a sensor of granular pH that controls the exocytotic machinery.
Immunolocalization demonstrated expression of all 'a' subunits in the proximal tubule and in the intercalated cells of the collecting system. PCR detected mRNAs encoding all four 'a' isoforms with a relative abundance in the following order: a4>a2=a1>a3.
Title: Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Gene trapped (1)
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136227 (e-PCR)
- UniSTS:210221

Atp6n1 (e-PCR), detects polymorphism
- UniSTS:141140

MARC_17693-17694:1031748036:1 (e-PCR)
- UniSTS:268378

AA959968 (e-PCR)
- UniSTS:180325

Atp6v0a1 (e-PCR), detects polymorphism
- UniSTS:506745

D11Ertd717e (e-PCR), detects polymorphism
- UniSTS:167074

Atp6v0a1 (e-PCR), detects polymorphism
- UniSTS:527047

NoName (e-PCR)
- UniSTS:236746

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase binding	IEA Inferred from Electronic Annotation more info
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in regulation of macroautophagy	IEA Inferred from Electronic Annotation more info
involved_in regulation of macroautophagy	ISO Inferred from Sequence Orthology 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
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in intracellular organelle	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology 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
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of vacuolar proton-transporting V-type ATPase, V0 domain	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: V-type proton ATPase 116 kDa subunit a 1

Names: ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1 (110/160 kDa); ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1A (110/160 kDa); ATPase, H+ transporting, lysosomal V0 subunit a; V-ATPase 116 kDa subunit a 1; V-ATPase 116 kDa subunit a1; V-ATPase a1; V-type proton ATPase 116 kDa subunit a; V-type proton ATPase 116 kDa subunit a1; 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

NP_001229978.1

EC 7.1.2.2

NP_001229979.1

EC 7.1.2.2

NP_001229980.1

EC 7.1.2.2

NP_001349565.1

EC 7.1.2.2

NP_001349566.1

EC 7.1.2.2

NP_001349567.1

EC 7.1.2.2

NP_001349568.1

EC 7.1.2.2

NP_001349569.1

EC 7.1.2.2

NP_001349570.1

EC 7.1.2.2

NP_001404275.1

EC 7.1.2.2

NP_001404276.1

EC 7.1.2.2

NP_001404277.1

EC 7.1.2.2

NP_001404278.1

EC 7.1.2.2

NP_001404279.1

EC 7.1.2.2

NP_001404280.1

EC 7.1.2.2

NP_058616.1

EC 7.1.2.2

XP_006532112.1

EC 7.1.2.2

XP_006532113.1

EC 7.1.2.2

XP_006532114.1

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_001243049.3 → NP_001229978.1 V-type proton ATPase 116 kDa subunit a 1 isoform 2

See identical proteins and their annotated locations for NP_001229978.1

Status: VALIDATED

Source sequence(s)

AL591425

UniProtKB/TrEMBL

Q3TXT5, Q3TY98, Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:1 → 769

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001243050.3 → NP_001229979.1 V-type proton ATPase 116 kDa subunit a 1 isoform 3

See identical proteins and their annotated locations for NP_001229979.1

Status: VALIDATED

Source sequence(s)

AL591425

Consensus CDS

CCDS56809.1

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Related

ENSMUSP00000090333.4, ENSMUST00000092663.4

Conserved Domains (2) summary

COG1269
Location:27 → 823

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

pfam01496
Location:28 → 822

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001243051.3 → NP_001229980.1 V-type proton ATPase 116 kDa subunit a 1 isoform 4

See identical proteins and their annotated locations for NP_001229980.1

Status: VALIDATED

Source sequence(s)

AL591425

Consensus CDS

CCDS56808.1

UniProtKB/Swiss-Prot

A2A5A1, Q9JHJ4, Q9JL13, Q9JL14, Q9Z1G4

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Related

ENSMUSP00000099399.4, ENSMUST00000103110.10

Conserved Domains (2) summary

COG1269
Location:27 → 830

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

pfam01496
Location:28 → 829

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001362636.2 → NP_001349565.1 V-type proton ATPase 116 kDa subunit a 1 isoform 5

Status: VALIDATED

Source sequence(s)

AL591425

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:27 → 853

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001362637.2 → NP_001349566.1 V-type proton ATPase 116 kDa subunit a 1 isoform 6

Status: VALIDATED

Source sequence(s)

AL591425

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:27 → 835

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001362638.2 → NP_001349567.1 V-type proton ATPase 116 kDa subunit a 1 isoform 1

Status: VALIDATED

Source sequence(s)

AL591425

Consensus CDS

CCDS25443.1

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:27 → 828

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001362639.2 → NP_001349568.1 V-type proton ATPase 116 kDa subunit a 1 isoform 7

Status: VALIDATED

Source sequence(s)

AL591425

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:1 → 768

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001362640.2 → NP_001349569.1 V-type proton ATPase 116 kDa subunit a 1 isoform 8

Status: VALIDATED

Source sequence(s)

AL591425

UniProtKB/TrEMBL

Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:27 → 669

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001362641.2 → NP_001349570.1 V-type proton ATPase 116 kDa subunit a 1 isoform 9

Status: VALIDATED

Source sequence(s)

AL591425

UniProtKB/TrEMBL

Q99M55

Conserved Domains (1) summary

cl27549
Location:27 → 221

V_ATPase_I; V-type ATPase 116kDa subunit family
NM_001417346.1 → NP_001404275.1 V-type proton ATPase 116 kDa subunit a 1 isoform 10

Status: VALIDATED

Source sequence(s)

AL591425
NM_001417347.1 → NP_001404276.1 V-type proton ATPase 116 kDa subunit a 1 isoform 11

Status: VALIDATED

Source sequence(s)

AL591425
NM_001417348.1 → NP_001404277.1 V-type proton ATPase 116 kDa subunit a 1 isoform 12

Status: VALIDATED

Source sequence(s)

AL591425
NM_001417349.1 → NP_001404278.1 V-type proton ATPase 116 kDa subunit a 1 isoform 13

Status: VALIDATED

Source sequence(s)

AL591425
NM_001417350.1 → NP_001404279.1 V-type proton ATPase 116 kDa subunit a 1 isoform 14

Status: VALIDATED

Source sequence(s)

AL591425
NM_001417351.1 → NP_001404280.1 V-type proton ATPase 116 kDa subunit a 1 isoform 15

Status: VALIDATED

Source sequence(s)

AL591425
NM_016920.5 → NP_058616.1 V-type proton ATPase 116 kDa subunit a 1 isoform 1

See identical proteins and their annotated locations for NP_058616.1

Status: VALIDATED

Source sequence(s)

AL591425

Consensus CDS

CCDS25443.1

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Related

ENSMUSP00000044838.7, ENSMUST00000044721.13

Conserved Domains (1) summary

pfam01496
Location:27 → 828

V_ATPase_I; V-type ATPase 116kDa subunit family

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_000077.7 Reference GRCm39 C57BL/6J

Range

100899262..100954545

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532049.4 → XP_006532112.1 V-type proton ATPase 116 kDa subunit a 1 isoform X1

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:27 → 860

V_ATPase_I; V-type ATPase 116kDa subunit family
XM_006532051.4 → XP_006532114.1 V-type proton ATPase 116 kDa subunit a 1 isoform X3

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:27 → 854

V_ATPase_I; V-type ATPase 116kDa subunit family
XM_006532050.4 → XP_006532113.1 V-type proton ATPase 116 kDa subunit a 1 isoform X2

UniProtKB/TrEMBL

Q3TXT5, Q6NXX6

Conserved Domains (1) summary

pfam01496
Location:27 → 854

V_ATPase_I; V-type ATPase 116kDa subunit family