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Aliases for ATP6V0A1 Gene

Aliases for ATP6V0A1 Gene

  • ATPase, H+ Transporting, Lysosomal V0 Subunit A1 2 3
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic Accessory Protein 1A (110/116kD) 2 3
  • Clathrin-Coated Vesicle/Synaptic Vesicle Proton Pump 116 KDa Subunit 3 4
  • Vacuolar Adenosine Triphosphatase Subunit Ac116 3 4
  • Vacuolar Proton Pump Subunit 1 3 4
  • ATP6N1A 3 4
  • ATP6N1 3 4
  • VPP1 3 4
  • ATPase, H+ Transporting, Lysosomal Non-Catalytic Accessory Protein 1 (110/116kD) 3
  • H(+)-Transporting Two-Sector ATPase, 116 KDa Accessory Protein A1 3
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 1 4
  • ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 1 2
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A 3
  • Vacuolar-Type H(+)-ATPase 115 KDa Subunit 3
  • V-Type Proton ATPase 116 KDa Subunit A 3
  • Vacuolar Proton Pump, Subunit 1 3
  • V-ATPase 116 KDa Isoform A1 4
  • V-ATPase 116 KDa 3
  • Stv1 3
  • Vph1 3
  • A1 3

External Ids for ATP6V0A1 Gene

Previous HGNC Symbols for ATP6V0A1 Gene

  • VPP1
  • ATP6N1
  • ATP6N1A

Previous GeneCards Identifiers for ATP6V0A1 Gene

  • GC17M040234
  • GC17M042848
  • GC17P040519
  • GC17P040984
  • GC17P037864
  • GC17P040610
  • GC17P036375

Summaries for ATP6V0A1 Gene

Entrez Gene Summary for ATP6V0A1 Gene

  • This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V0A1 Gene

ATP6V0A1 (ATPase, H+ Transporting, Lysosomal V0 Subunit A1) is a Protein Coding gene. Diseases associated with ATP6V0A1 include inferior myocardial infarction and bone giant cell tumor. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is TCIRG1.

UniProtKB/Swiss-Prot for ATP6V0A1 Gene

  • Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity).

Tocris Summary for ATP6V0A1 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V0A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0A1 Gene

Genomics for ATP6V0A1 Gene

Regulatory Elements for ATP6V0A1 Gene

Genomic Location for ATP6V0A1 Gene

Chromosome:
17
Start:
42,458,844 bp from pter
End:
42,522,611 bp from pter
Size:
63,768 bases
Orientation:
Plus strand

Genomic View for ATP6V0A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V0A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0A1 Gene

Proteins for ATP6V0A1 Gene

  • Protein details for ATP6V0A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93050-VPP1_HUMAN
    Recommended name:
    V-type proton ATPase 116 kDa subunit a isoform 1
    Protein Accession:
    Q93050
    Secondary Accessions:
    • B7Z3B7
    • Q8N5G7
    • Q9NSX0

    Protein attributes for ATP6V0A1 Gene

    Size:
    837 amino acids
    Molecular mass:
    96413 Da
    Quaternary structure:
    • The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c, and c

    Alternative splice isoforms for ATP6V0A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V0A1 Gene

Proteomics data for ATP6V0A1 Gene at MOPED

Post-translational modifications for ATP6V0A1 Gene

  • Ubiquitination at Lys 369 and Lys 666
  • Glycosylation at Asn 488
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ATP6V0A1 Gene

Domains & Families for ATP6V0A1 Gene

Gene Families for ATP6V0A1 Gene

Protein Domains for ATP6V0A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q93050

UniProtKB/Swiss-Prot:

VPP1_HUMAN :
  • Belongs to the V-ATPase 116 kDa subunit family.
Family:
  • Belongs to the V-ATPase 116 kDa subunit family.
genes like me logo Genes that share domains with ATP6V0A1: view

Function for ATP6V0A1 Gene

Molecular function for ATP6V0A1 Gene

UniProtKB/Swiss-Prot Function:
Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and regulation of the enzyme for a specific organelle (By similarity).

Gene Ontology (GO) - Molecular Function for ATP6V0A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12649290
GO:0015078 hydrogen ion transmembrane transporter activity --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
GO:0051117 ATPase binding IPI 17360703
genes like me logo Genes that share ontologies with ATP6V0A1: view

Phenotypes for ATP6V0A1 Gene

GenomeRNAi human phenotypes for ATP6V0A1:
genes like me logo Genes that share phenotypes with ATP6V0A1: view

Animal Model Products

miRNA for ATP6V0A1 Gene

miRTarBase miRNAs that target ATP6V0A1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V0A1 Gene

Localization for ATP6V0A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0A1 Gene

Cytoplasmic vesicle membrane; Multi-pass membrane protein. Melanosome. Note=Coated vesicle. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V0A1 Gene COMPARTMENTS Subcellular localization image for ATP6V0A1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endosome 4
golgi apparatus 4
nucleus 4
vacuole 3
cytosol 2
lysosome 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP6V0A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane IDA 17360703
genes like me logo Genes that share ontologies with ATP6V0A1: view

Pathways & Interactions for ATP6V0A1 Gene

genes like me logo Genes that share pathways with ATP6V0A1: view

Gene Ontology (GO) - Biological Process for ATP6V0A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0007035 vacuolar acidification IBA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015986 ATP synthesis coupled proton transport IBA --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
genes like me logo Genes that share ontologies with ATP6V0A1: view

No data available for SIGNOR curated interactions for ATP6V0A1 Gene

Drugs & Compounds for ATP6V0A1 Gene

(1) Drugs for ATP6V0A1 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V0A1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Concanamycin A
80890-47-7
Enterostatin
117830-79-2
genes like me logo Genes that share compounds with ATP6V0A1: view

Transcripts for ATP6V0A1 Gene

Unigene Clusters for ATP6V0A1 Gene

ATPase, H+ transporting, lysosomal V0 subunit a1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - -
SP2:
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b · 23c · 23d · 23e · 23f
SP1: - - - - - -
SP2:
SP3:
SP4:
SP5:
SP6: - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - -
SP10:
SP11: -

Relevant External Links for ATP6V0A1 Gene

GeneLoc Exon Structure for
ATP6V0A1
ECgene alternative splicing isoforms for
ATP6V0A1

Expression for ATP6V0A1 Gene

mRNA expression in normal human tissues for ATP6V0A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP6V0A1 Gene

This gene is overexpressed in Frontal cortex (23.3), Brain (14.2), Nasal epithelium (11.2), and Retina (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V0A1 Gene



SOURCE GeneReport for Unigene cluster for ATP6V0A1 Gene Hs.463074

genes like me logo Genes that share expression patterns with ATP6V0A1: view

Protein tissue co-expression partners for ATP6V0A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATP6V0A1 Gene

Orthologs for ATP6V0A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP6V0A1 35
  • 92.47 (n)
  • 97.37 (a)
ATP6V0A1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0A1 35
  • 93.11 (n)
  • 97.49 (a)
ATP6V0A1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0a1 35
  • 89.09 (n)
  • 96.18 (a)
Atp6v0a1 16
Atp6v0a1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0A1 35
  • 99.68 (n)
  • 99.88 (a)
ATP6V0A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0a1 35
  • 88.65 (n)
  • 96.3 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP6V0A1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0A1 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0A1 35
  • 81.12 (n)
  • 92.11 (a)
ATP6V0A1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V0A1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0a1 35
  • 78.06 (n)
  • 89.25 (a)
African clawed frog
(Xenopus laevis)
Amphibia atp6v0a1-prov 35
zebrafish
(Danio rerio)
Actinopterygii atp6v0a1a 36
  • 82 (a)
OneToMany
atp6v0a1b 36
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12602 37
  • 50 (a)
CG7678 37
  • 49 (a)
Vha100-1 37
  • 60 (a)
Vha100-2 37
  • 53 (a)
Vha100-1 35
  • 62.47 (n)
  • 64.24 (a)
Vha100-1 36
  • 61 (a)
ManyToMany
Vha100-2 36
  • 53 (a)
ManyToMany
Vha100-3 36
  • 33 (a)
ManyToMany
Vha100-4 36
  • 48 (a)
ManyToMany
Vha100-5 36
  • 51 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003711 35
  • 61.73 (n)
  • 65.31 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-32 37
  • 56 (a)
vha-5 37
  • 46 (a)
vha-7 37
  • 40 (a)
ZK637.8c 37
  • 57 (a)
ZK637.8d 37
  • 56 (a)
ZK637.8e 37
  • 57 (a)
ZK637.8f 37
  • 57 (a)
unc-32 35
  • 60.51 (n)
  • 60.63 (a)
unc-32 36
  • 56 (a)
ManyToMany
vha-5 36
  • 45 (a)
ManyToMany
vha-6 36
  • 46 (a)
ManyToMany
vha-7 36
  • 30 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR177C 35
  • 49.11 (n)
  • 41.74 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07491g 35
  • 49.61 (n)
  • 41.59 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPH1 35
  • 51.03 (n)
  • 44.4 (a)
STV1 36
  • 36 (a)
ManyToMany
VPH1 36
  • 40 (a)
ManyToMany
VPH1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-A1 35
  • 52.05 (n)
  • 43.84 (a)
rice
(Oryza sativa)
Liliopsida Os.28056 35
Os01g0834200 35
  • 50.9 (n)
  • 45.88 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13312 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03463 35
  • 51.72 (n)
  • 42.98 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vph1 35
  • 48.58 (n)
  • 42.84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8313 36
  • 62 (a)
ManyToMany
CSA.9891 36
  • 56 (a)
ManyToMany
Species with no ortholog for ATP6V0A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V0A1 Gene

ENSEMBL:
Gene Tree for ATP6V0A1 (if available)
TreeFam:
Gene Tree for ATP6V0A1 (if available)

Paralogs for ATP6V0A1 Gene

Paralogs for ATP6V0A1 Gene

genes like me logo Genes that share paralogs with ATP6V0A1: view

Variants for ATP6V0A1 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0A1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs14734 -- 42,522,517(+) GAACC(A/C)TGCCC utr-variant-3-prime
rs938671 -- 42,521,703(+) TGTCA(C/T)CCCCA utr-variant-3-prime
rs938672 -- 42,507,198(-) TAATA(C/T)GAACA intron-variant
rs1032070 -- 42,466,233(+) AGCAA(C/T)GAGGG intron-variant
rs1054326 -- 42,522,332(+) CTTTT(C/T)TGAGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0A1 Gene

Variant ID Type Subtype PubMed ID
nsv908249 CNV Loss 21882294
nsv470586 CNV Gain 18288195
dgv3172n71 CNV Loss 21882294
nsv827995 CNV Loss 20364138
esv33998 OTHER Inversion 15654335
nsv908255 CNV Loss 21882294

Variation tolerance for ATP6V0A1 Gene

Residual Variation Intolerance Score: 11.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V0A1 Gene

HapMap Linkage Disequilibrium report
ATP6V0A1
Human Gene Mutation Database (HGMD)
ATP6V0A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0A1 Gene

Disorders for ATP6V0A1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP6V0A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
inferior myocardial infarction
  • inferior myocardial infarction nos
bone giant cell tumor
  • giant cell tumor of bone nos
- elite association

Relevant External Links for ATP6V0A1

Genetic Association Database (GAD)
ATP6V0A1
Human Genome Epidemiology (HuGE) Navigator
ATP6V0A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0A1
genes like me logo Genes that share disorders with ATP6V0A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V0A1 Gene

Publications for ATP6V0A1 Gene

  1. Role of purinergic signaling pathways in V-ATPase recruitment to apical membrane of acidifying epididymal clear cells. (PMID: 20071692) BelleannAce C. … Breton S. (Am. J. Physiol., Cell Physiol. 2010) 23 67
  2. Expression of genes and their responses to enzyme replacement therapy in a Fabry disease mouse model. (PMID: 19639234) Park E.S. … Jung S.C. (Int. J. Mol. Med. 2009) 23 67
  3. The proton pump inhibitor inhibits cell growth and induces apoptosis in human hepatoblastoma. (PMID: 18712525) Morimura T. … Satomi A. (Pediatr. Surg. Int. 2008) 23 67
  4. The a3 isoform of the 100-kDa V-ATPase subunit is highly but differentially expressed in large (>or=10 nuclei) and small (<or= nuclei) osteoclasts. (PMID: 14504271) Manolson M.F. … Heersche J.N. (J. Biol. Chem. 2003) 23 67
  5. Retrograde transport from the pre-Golgi intermediate compartment and the Golgi complex is affected by the vacuolar H+-ATPase inhibitor bafilomycin A1. (PMID: 9843588) Palokangas H. … Saraste J. (Mol. Biol. Cell 1998) 23 67

Products for ATP6V0A1 Gene

Sources for ATP6V0A1 Gene

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