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

Gene ID: 11964, updated on 11-Apr-2024

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. Predicted to be involved in cellular iron ion homeostasis; cellular response to increased oxygen levels; and proton transmembrane transport. Predicted to act upstream of or within ion transport. Located in apical plasma membrane; cytosol; and microvillus. 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, Apr 2022]
Expression
Broad expression in cerebellum adult (RPKM 59.0), frontal lobe adult (RPKM 52.8) and 24 other tissues See more
Orthologs
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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_000082.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46552 Neighboring gene GRAM domain containing 1C Neighboring gene STARR-seq mESC enhancer starr_40889 Neighboring gene microRNA 3470b Neighboring gene STARR-seq mESC enhancer starr_40890 Neighboring gene STARR-seq mESC enhancer starr_40891 Neighboring gene STARR-seq mESC enhancer starr_40894 Neighboring gene STARR-seq mESC enhancer starr_40895 Neighboring gene STARR-positive B cell enhancer ABC_E9932 Neighboring gene STARR-seq mESC enhancer starr_40896 Neighboring gene N(alpha)-acetyltransferase 50, NatE catalytic subunit Neighboring gene STARR-positive B cell enhancer ABC_E11613 Neighboring gene STARR-positive B cell enhancer ABC_E2462 Neighboring gene upstream transcription factor family member 3

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Endonuclease-mediated (4) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 nucleotide binding 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 
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 cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
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 PubMed 
located_in myelin sheath HDA PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
part_of transmembrane transporter complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase, V1 domain ISO
Inferred from Sequence Orthology
more info
 

General protein information

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
NP_001345133.1
NP_001400404.1
NP_001400405.1
NP_001400406.1
NP_031534.2

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)

  1. NM_001358203.1NP_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:17609
    V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit
  2. NM_001358204.1NP_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:17609
    V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit
  3. NM_001413475.1NP_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
  4. NM_001413476.1NP_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
  5. NM_001413477.1NP_001400406.1  V-type proton ATPase catalytic subunit A isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC125098
  6. NM_007508.6NP_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:17609
    V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit

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_000082.7 Reference GRCm39 C57BL/6J

    Range
    43905765..43960055 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)