Atp6v1a ATPase, H+ transporting, lysosomal V1 subunit A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v1aprovided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V1 subunit Aprovided by MGI
Primary source: MGI:MGI:1201780
See related: Ensembl:ENSMUSG00000052459 AllianceGenome:MGI:1201780
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: VA68; VPP2; Atp6a1; Atp6a2; Atp6v1a1
Summary: Enables proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Located in apical plasma membrane; cytosol; and microvillus. Part of proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and developmental and epileptic encephalopathy 93. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in cerebellum adult (RPKM 59.0), frontal lobe adult (RPKM 52.8) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B4; 16 28.44 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (43905765..43960055, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (44085402..44139702, complement)

Chromosome 16 - NC_000082.7 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
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?

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Variation

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Alleles

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

Endonuclease-mediated (4)
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Bhm20 (e-PCR), detects polymorphism
- UniSTS:141619

RH127473 (e-PCR)
- UniSTS:210783

AI647066 (e-PCR)
- UniSTS:180919

Atp6v1a (e-PCR), detects polymorphism
- UniSTS:527049

NoName (e-PCR)
- UniSTS:237515

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables proton-transporting ATP synthase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info
enables proton-transporting ATPase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
enables proton-transporting ATPase activity, rotational mechanism	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 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 proton motive force-driven ATP synthesis	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	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
part_of ATPase complex	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in myelin sheath	HDA more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting V-type ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting V-type ATPase, V1 domain	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule	IEA Inferred from Electronic Annotation more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: V-type proton ATPase catalytic subunit A

Names: 70-kDa subunit; ATPase, H+ transporting, V1 subunit A; ATPase, H+ transporting, V1 subunit A1; ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha 70 kDa; ATPase, H+ transporting, lysosomal 70kD, V1 subunit A; V-ATPase 69 kDa subunit; V-ATPase subunit A; lysosomal 70kDa; vacuolar proton pump subunit alpha

NP_001345132.1

EC 7.1.2.2

NP_001345133.1

EC 7.1.2.2

NP_001400404.1

EC 7.1.2.2

NP_001400405.1

EC 7.1.2.2

NP_001400406.1

EC 7.1.2.2

NP_031534.2

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_001358203.1 → NP_001345132.1 V-type proton ATPase catalytic subunit A isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC125098

Consensus CDS

CCDS28182.1

UniProtKB/Swiss-Prot

P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2

Conserved Domains (1) summary

TIGR01042
Location:17 → 609

V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit
NM_001358204.1 → NP_001345133.1 V-type proton ATPase catalytic subunit A isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC125098

Consensus CDS

CCDS28182.1

UniProtKB/Swiss-Prot

P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2

Related

ENSMUSP00000066886.7, ENSMUST00000063661.13

Conserved Domains (1) summary

TIGR01042
Location:17 → 609

V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit
NM_001413475.1 → NP_001400404.1 V-type proton ATPase catalytic subunit A isoform 1

Status: VALIDATED

Source sequence(s)

AC125098

UniProtKB/Swiss-Prot

P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2
NM_001413476.1 → NP_001400405.1 V-type proton ATPase catalytic subunit A isoform 1

Status: VALIDATED

Source sequence(s)

AC125098

UniProtKB/Swiss-Prot

P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2
NM_001413477.1 → NP_001400406.1 V-type proton ATPase catalytic subunit A isoform 2

Status: VALIDATED

Source sequence(s)

AC125098
NM_007508.6 → NP_031534.2 V-type proton ATPase catalytic subunit A isoform 1

See identical proteins and their annotated locations for NP_031534.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC125098

Consensus CDS

CCDS28182.1

UniProtKB/Swiss-Prot

P50516, Q3TKS0, Q3U5W3, Q3U777, Q3UDZ9, Q3US31, Q8CHX2

Related

ENSMUSP00000110314.3, ENSMUST00000114666.9

Conserved Domains (1) summary

TIGR01042
Location:17 → 609

V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit