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Aliases for ATP6V0A4 Gene

Aliases for ATP6V0A4 Gene

  • ATPase, H+ Transporting, Lysosomal V0 Subunit A4 2 3
  • ATP6N1B 3 4 6
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic Accessory Protein 1B 2 3
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Kidney Isoform 3 4
  • ATP6N2 3 4
  • RTADR 3 6
  • RTA1C 3 6
  • VPP2 3 6
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic Accessory Protein 2 (38kD) 3
  • H(+)-Transporting Two-Sector ATPase, Noncatalytic Accessory Protein 1B 3
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 4 4
  • ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 4 2
  • V-Type Proton ATPase 116 KDa Subunit A Isoform 4 3
  • Vacuolar Proton Pump 116 KDa Accessory Subunit 3
  • V-Type Proton ATPase 116 KDa Subunit A 3
  • Vacuolar Proton Pump, Subunit 2 3
  • V-ATPase 116 KDa Isoform A4 4
  • V-ATPase 116 KDa 3
  • RDRTA2 3
  • Stv1 3
  • Vph1 3
  • A4 3

External Ids for ATP6V0A4 Gene

Previous Symbols for ATP6V0A4 Gene

  • ATP6N1B
  • ATP6N2
  • RTA1C

Summaries for ATP6V0A4 Gene

Entrez Gene Summary for ATP6V0A4 Gene

  • This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V0A4 Gene

ATP6V0A4 (ATPase, H+ Transporting, Lysosomal V0 Subunit A4) is a Protein Coding gene. Diseases associated with ATP6V0A4 include renal tubular acidosis, distal, autosomal recessive and renal tubular acidosis, distal. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include ATPase binding and hydrogen ion transmembrane transporter activity. An important paralog of this gene is ATP6V0A1.

UniProtKB/Swiss-Prot for ATP6V0A4 Gene

  • Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.

Tocris Summary for ATP6V0A4 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, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.

Gene Wiki entry for ATP6V0A4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0A4 Gene

Genomics for ATP6V0A4 Gene

Genomic Location for ATP6V0A4 Gene

Start:
138,706,294 bp from pter
End:
138,799,560 bp from pter
Size:
93,267 bases
Orientation:
Minus strand

Genomic View for ATP6V0A4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V0A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0A4 Gene

Regulatory Elements for ATP6V0A4 Gene

Proteins for ATP6V0A4 Gene

  • Protein details for ATP6V0A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBG4-VPP4_HUMAN
    Recommended name:
    V-type proton ATPase 116 kDa subunit a isoform 4
    Protein Accession:
    Q9HBG4
    Secondary Accessions:
    • A4D1R4
    • A8KA80
    • Q32M47

    Protein attributes for ATP6V0A4 Gene

    Size:
    840 amino acids
    Molecular mass:
    96386 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

neXtProt entry for ATP6V0A4 Gene

Proteomics data for ATP6V0A4 Gene at MOPED

Post-translational modifications for ATP6V0A4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V0A4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP6V0A4 Gene

Domains for ATP6V0A4 Gene

Gene Families for ATP6V0A4 Gene

HGNC:
  • VATP :ATPases / V-type
IUPHAR :

UniProtKB/Swiss-Prot:

VPP4_HUMAN
Family:
  • Belongs to the V-ATPase 116 kDa subunit family.:
    • Q9HBG4
genes like me logo Genes that share domains with ATP6V0A4: view

Function for ATP6V0A4 Gene

Molecular function for ATP6V0A4 Gene

UniProtKB/Swiss-Prot Function: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.

Gene Ontology (GO) - Molecular Function for ATP6V0A4 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 ATP6V0A4: view
genes like me logo Genes that share phenotypes with ATP6V0A4: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ATP6V0A4 Gene

Localization for ATP6V0A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0A4 Gene

Apical cell membrane; Multi-pass membrane protein. Note=Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V0A4 Gene COMPARTMENTS Subcellular localization image for ATP6V0A4 gene
Compartment Confidence
plasma membrane 5
endosome 4
vacuole 2
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP6V0A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome ISS --
GO:0005886 plasma membrane IDA 17360703
GO:0005903 brush border --
genes like me logo Genes that share ontologies with ATP6V0A4: view

Pathways for ATP6V0A4 Gene

genes like me logo Genes that share pathways with ATP6V0A4: view

Interacting Proteins for ATP6V0A4 Gene

Gene Ontology (GO) - Biological Process for ATP6V0A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IMP 10973252
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006885 regulation of pH IMP 10973252
GO:0007035 vacuolar acidification IBA --
GO:0007588 excretion IMP 12414817
genes like me logo Genes that share ontologies with ATP6V0A4: view

Compounds for ATP6V0A4 Gene

(3) Tocris Compounds for ATP6V0A4 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor [88899-55-2]
Concanamycin A H+-ATPase (vacuolar) inhibitor [80890-47-7]
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities [97-77-8]

(5) HMDB Compounds for ATP6V0A4 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Calcium
  • Ca
7440-70-2
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with ATP6V0A4: view

Transcripts for ATP6V0A4 Gene

Unigene Clusters for ATP6V0A4 Gene

ATPase, H+ transporting, lysosomal V0 subunit a4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2: - - - - - - -
SP3: -
SP4:
SP5: - - -

ExUns: 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ATP6V0A4 Gene

GeneLoc Exon Structure for
ATP6V0A4
ECgene alternative splicing isoforms for
ATP6V0A4

Expression for ATP6V0A4 Gene

mRNA expression in normal human tissues for ATP6V0A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V0A4 Gene

This gene is overexpressed in Kidney - Cortex (27.5), Skin - Sun Exposed (Lower leg) (7.3), and Skin - Not Sun Exposed (Suprapubic) (6.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V0A4 Gene

SOURCE GeneReport for Unigene cluster for ATP6V0A4 Gene Hs.98967

mRNA Expression by UniProt/SwissProt for ATP6V0A4 Gene

Q9HBG4-VPP4_HUMAN
Tissue specificity: Expressed in adult and fetal kidney. Found in the inner ear.
genes like me logo Genes that share expressions with ATP6V0A4: view

Orthologs for ATP6V0A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0A4 36
  • 99.44 (n)
  • 99.64 (a)
ATP6V0A4 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V0A4 36
  • 86.49 (n)
  • 86.21 (a)
ATP6V0A4 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0A4 36
  • 88.8 (n)
  • 90.94 (a)
ATP6V0A4 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0a4 36
  • 83.75 (n)
  • 86.19 (a)
Atp6v0a4 16
Atp6v0a4 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6V0A4 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0A4 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0a4 36
  • 84.19 (n)
  • 86.52 (a)
chicken
(Gallus gallus)
Aves ATP6V0A4 36
  • 74.02 (n)
  • 78.43 (a)
lizard
(Anolis carolinensis)
Reptilia ATP6V0A4 37
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0a4 36
  • 70.75 (n)
  • 75.83 (a)
Str.10232 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001587 36
  • 57.62 (n)
  • 52.4 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vha100-1 37
  • 53 (a)
ManyToMany
Vha100-2 36
  • 58.04 (n)
  • 53.34 (a)
Vha100-2 37
  • 51 (a)
ManyToMany
Vha100-3 37
  • 33 (a)
ManyToMany
Vha100-4 37
  • 46 (a)
ManyToMany
Vha100-5 37
  • 49 (a)
ManyToMany
Vha100-1 38
  • 52 (a)
Vha100-2 38
  • 51 (a)
CG12602 38
  • 47 (a)
CG7678 38
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-32 37
  • 50 (a)
ManyToMany
vha-5 37
  • 44 (a)
ManyToMany
vha-6 37
  • 45 (a)
ManyToMany
vha-7 37
  • 30 (a)
ManyToMany
ZK637.8d 38
  • 50 (a)
unc-32 38
  • 50 (a)
ZK637.8e 38
  • 51 (a)
vha-5 38
  • 45 (a)
vha-7 38
  • 40 (a)
ZK637.8f 38
  • 51 (a)
ZK637.8c 38
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STV1 37
  • 33 (a)
ManyToMany
VPH1 37
  • 37 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7987 36
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-A2 36
  • 52.71 (n)
  • 46.09 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.6065 36
corn
(Zea mays)
Liliopsida Zm.12750 36
rice
(Oryza sativa)
Liliopsida Os.10779 36
Os03g0251500 36
  • 50.63 (n)
  • 44.16 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7589 36
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4414 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 65 (a)
OneToMany
Species with no ortholog for ATP6V0A4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • zebrafish (Danio rerio)

Evolution for ATP6V0A4 Gene

ENSEMBL:
Gene Tree for ATP6V0A4 (if available)
TreeFam:
Gene Tree for ATP6V0A4 (if available)

Paralogs for ATP6V0A4 Gene

Paralogs for ATP6V0A4 Gene

Selected SIMAP similar genes for ATP6V0A4 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for ATP6V0A4 Gene

genes like me logo Genes that share paralogs with ATP6V0A4: view

Variants for ATP6V0A4 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0A4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs8846 -- 138,706,385(+) AATTA(C/T)TTTAT utr-variant-3-prime
rs169852 -- 138,740,442(-) tctcc(A/C)aaaaa intron-variant
rs172462 -- 138,730,963(-) agagc(A/C)aaact intron-variant
rs182425 -- 138,716,460(+) AAAAA(A/G)GGACA intron-variant
rs296908 -- 138,758,276(-) TGTAG(C/T)ATACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0A4 Gene

Variant ID Type Subtype PubMed ID
esv2735212 CNV Deletion 23290073
esv2735223 CNV Deletion 23290073
esv1494986 CNV Insertion 17803354
esv1418023 CNV Deletion 17803354
esv2735224 CNV Deletion 23290073
esv2735225 CNV Deletion 23290073
esv2735226 CNV Deletion 23290073
esv1086375 CNV Deletion 17803354
esv8235 CNV Gain 19470904
nsv831154 CNV Gain 17160897
nsv366558 CNV Insertion 16902084
esv1054907 CNV Insertion 17803354

Relevant External Links for ATP6V0A4 Gene

HapMap Linkage Disequilibrium report
ATP6V0A4
Human Gene Mutation Database (HGMD)
ATP6V0A4

Disorders for ATP6V0A4 Gene

(1) OMIM Diseases for ATP6V0A4 Gene (605239)

UniProtKB/Swiss-Prot

VPP4_HUMAN
  • Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]: An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269 PubMed:10973252, ECO:0000269 PubMed:12414817}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for ATP6V0A4 Gene

Disease -log(P) Hits PubMed IDs
renal tubular acidosis, distal, autosomal recessive 97.2 2
distal renal tubular acidosis 94.1 7

Relevant External Links for ATP6V0A4

Genetic Association Database (GAD)
ATP6V0A4
Human Genome Epidemiology (HuGE) Navigator
ATP6V0A4
genes like me logo Genes that share disorders with ATP6V0A4: view

Publications for ATP6V0A4 Gene

  1. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116- kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. (PMID: 10973252) Smith A.N. … Karet F.E. (Nat. Genet. 2000) 2 3 4 23
  2. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. (PMID: 10577919) Karet F.E. … Lifton R.P. (Am. J. Hum. Genet. 1999) 2 3
  3. Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. (PMID: 14638902) Stehberger P.A. … Wagner C.A. (J. Am. Soc. Nephrol. 2003) 3 23
  4. Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells. (PMID: 19366680) Hinton A. … Forgac M. (J. Biol. Chem. 2009) 3 23
  5. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. (PMID: 19639346) Andreucci E. … Pela I. (Pediatr. Nephrol. 2009) 3 23

Products for ATP6V0A4 Gene

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