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ATP6V0A4 Gene

protein-coding   GIFtS: 63
GCID: GC07M138391

ATPase, H+ Transporting, Lysosomal V0 Subunit A4

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATP6N1B, ATP6N2, RTA1C)
  See ATP6V0A4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, H+ Transporting, Lysosomal V0 Subunit A41 2     STV12
ATP6N1B1 2 3 5     VPH12
ATP6N21 2 3     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic
Accessory Protein 2 (38kD)2
RTA1C1 2 5     H(+)-Transporting Two-Sector ATPase, Noncatalytic Accessory Protein 1B2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic
Accessory Protein 1B1 2
     V-ATPase 116 KDa2
Vacuolar Proton Translocating ATPase 116 KDa Subunit A Kidney Isoform2 3     V-Type Proton ATPase 116 KDa Subunit A2
RTADR2 5     V-Type Proton ATPase 116 KDa Subunit A Isoform 42
VPP22 5     Vacuolar Proton Pump 116 KDa Accessory Subunit2
ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 41     Vacuolar Proton Pump, Subunit 22
A42     V-ATPase 116 KDa Isoform A43
RDRTA22     Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 43

External Ids:    HGNC: 8661   Entrez Gene: 506172   Ensembl: ENSG000001059297   OMIM: 6052395   UniProtKB: Q9HBG43   

Export aliases for ATP6V0A4 gene to outside databases

Previous GC identifers: GC07M136731 GC07M137791 GC07M137805 GC07M137848 GC07M138041 GC07M132702


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and ATPase binding. An important paralog of this gene is ATP6V0A2.

UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4
Function: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the
urine by the kidney (By similarity)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V0A4 gene promoter:
         GR   FAC1   AML1a   Zic1   HNF-1   SEF-1 (1)   GR-alpha   HNF-1A   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ATP6V0A4 promoter sequence
   Search Chromatin IP Primers for ATP6V0A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V0A4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

ATP6V0A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0A4 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M138391:  view genomic region     (about GC identifiers)

Start:
138,391,039 bp from pter      End:
138,484,305 bp from pter
Size:
93,267 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 137,735,216-137,827,150     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4 (See protein sequence)
Recommended Name: V-type proton ATPase 116 kDa subunit a isoform 4  
Size: 840 amino acids; 96386 Da
Subunit: 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''
Secondary accessions: A4D1R4 A8KA80 Q32M47

Explore the universe of human proteins at neXtProt for ATP6V0A4: NX_Q9HBG4

Explore proteomics data for ATP6V0A4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATP6V0A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_065683.2  NP_570855.2  NP_570856.2  

    ENSEMBL proteins: 
     ENSP00000308122   ENSP00000253856   ENSP00000376774  
    Reactome Protein details: Q9HBG4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: a4
    V-type ATPase

    2 InterPro protein domains:
     IPR002490 V-ATPase_116kDa_su
     IPR026028 V-type_ATPase_116kDa_su_euka

    Graphical View of Domain Structure for InterPro Entry Q9HBG4

    ProtoNet protein and cluster: Q9HBG4

    2 Blocks protein domains:
    IPB002490 V-type ATPase
    IPB011072 Protein kinase PKN/PRK1


    UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4
    Similarity: Belongs to the V-ATPase 116 kDa subunit family


    Find genes that share domains with ATP6V0A4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VPP4_HUMAN, Q9HBG4
    Function: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the
    urine by the kidney (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12649290
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
    GO:0051117ATPase binding IPI17360703
         
    Find genes that share ontologies with ATP6V0A4           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atp6v0a4):
     behavior/neurological  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging 
     renal/urinary system  skeleton  taste/olfaction 

    Find genes that share phenotypes with ATP6V0A4           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP6V0A4
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VPP4_HUMAN, Q9HBG4: 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: 

    CompartmentConfidence
    plasma membrane5
    endosome4
    vacuole2
    cytosol1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000220vacuolar proton-transporting V-type ATPase, V0 domain IEA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005768endosome ISS--
    GO:0005886plasma membrane IDA17360703
    GO:0005903brush border ----

    Find genes that share ontologies with ATP6V0A4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP6V0A4 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.74
    Collecting duct acid secretion0.66
    Transferrin endocytosis and recycling0.74
    Vibrio cholerae infection0.40
    Iron uptake and transport0.70
    Epithelial cell signaling in Helicobacter pylori infection0.32
    2Insulin receptor signalling cascade
    Signaling by Insulin receptor0.80
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.58
    5Synaptic vesicle cycle
    Synaptic vesicle cycle0.50


    Find genes that share SuperPaths with ATP6V0A4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for ATP6V0A4
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V0A4) (see all 10):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V0A4
    Interactions:

        GeneGlobe Interaction Network for ATP6V0A4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP6V0A4 (Q9HBG43 ENSP000002538564) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PFKMP082373, ENSP000003528424I2D: score=2 STRING: ENSP00000352842
    APPENSP000002849814STRING: ENSP00000284981
    ATP6V0A1ENSP000002646494STRING: ENSP00000264649
    ATP6V0A2ENSP000003322474STRING: ENSP00000332247
    ATP6V1AENSP000002733984STRING: ENSP00000273398
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IMP10973252
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006885regulation of pH IMP10973252
    GO:0007588excretion IMP12414817
    GO:0007605sensory perception of sound IMP12414817

    Find genes that share ontologies with ATP6V0A4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ATP6V0A4 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
    Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
    DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]

    5 HMDB Compounds for ATP6V0A4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATP6V0A4 gene (3 alternative transcripts): 
    NM_020632.2  NM_130840.2  NM_130841.2  

    Unigene Cluster for ATP6V0A4:

    ATPase, H+ transporting, lysosomal V0 subunit a4
    Hs.98967  [show with all ESTs]
    Unigene Representative Sequence: NM_020632
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310018(uc003vug.3 uc003vuh.3) ENST00000353492 ENST00000471085
    ENST00000478480 ENST00000483139 ENST00000479909 ENST00000393054(uc003vuf.3)

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    Additional mRNA sequence: 

    AF245517.1 AK055789.1 AK292945.1 BC109304.1 BC109305.1 

    4 DOTS entries:

    DT.308971  DT.91951018  DT.95154720  DT.40119576 

    Selected AceView cDNA sequences (see all 36):

    AA995090 AA864691 BM764852 AF245517 NM_020632 NM_130841 CB853365 AK055789 
    NM_130840 BI765487 AI343783 AA441916 CD630250 AA442025 CD630254 CD630248 
    AA297866 BX486766 BX486706 BG696616 BU183444 BX108597 AI302408 BU178313 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A4    About this scheme

    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:                  


    ECgene alternative splicing isoforms for ATP6V0A4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP6V0A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATP6V0A4 Expression
    About this image


    ATP6V0A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
    ATP6V0A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V0A4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98967

    UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4
    Tissue specificity: Expressed in adult and fetal kidney. Found in the inner ear

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V0A4 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v0a41 , 5 ATPase, H+ transporting, lysosomal V0 subunit A41, 5 83.75(n)1
    86.19(a)1
      6 (17.50 cM)5
    1404941  NM_080467.31  NP_536715.31 
     380484835 
    chicken
    (Gallus gallus)
    Aves ATP6V0A41 ATPase, H+ transporting, lysosomal V0 subunit a4 74.02(n)
    78.43(a)
      418104  NM_001080102.2  NP_001073571.2 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V0A46
    ATPase, H+ transporting, lysosomal V0 subunit a4
    73(a)
    1 ↔ 1
    5(14889006-14913724)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060417.12   -- 76.71(n)    BC060417.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha100-13
    Vha100-21
    hydrogen-transporting two-sector
    ATPase3
    Vacuolar H[+] ATPase subunit 100-21
    52(a)
    (best of 4)3
    58.04(n)1
    53.34(a)1
      98F123
    422161  NM_142465.21  NP_650722.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK637.8f3 TJ6/proton pump 51(a)
    (best of 7)
        --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPH16
    STV16
    Subunit a of vacuolar-ATPase V0 domain, one of two...
    Subunit a of the vacuolar-ATPase V0 domain, one of...
    37(a)
    33(a)
    many ↔ many
    many ↔ many
    XV(828052-830574) YOR270C
    XIII(383303-385975) YMR054W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VHA-A21 VHA-A2 52.71(n)
    46.09(a)
      816680  NM_127713.3  NP_179736.1 
    rice
    (Oryza sativa)
    Liliopsida Os.107792 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.94(n)    AK101151.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V0A4 gene
    ATP6V0A22  TCIRG12  ATP6V0A12  
    5 SIMAP similar genes for ATP6V0A4 using alignment to 1 protein entry:     VPP4_HUMAN:
    DKFZp781J1951    DKFZp686N0561    ATP6V0A1    ATP6V0A2    TCIRG1

    Find genes that share paralogs with ATP6V0A4           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATP6V0A4
    PGOHUM00000244092


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP6V0A4 (see all 2642)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289390811,2,,4
    CRenal tubular acidosis, distal, autosomal recessive (RTADR)4 pathogenic1141756949(-) CCTGCA/GACTGC 6 Q R mis1 ese30--------
    rs38071531,2,,4
    C,F,HRenal tubular acidosis, distal, autosomal recessive (RTADR)4 pathogenic1141781239(-) TGAGAT/CGATTT 6 /T /M mis1 ese322Minor allele frequency- C:0.10NA NS EA CSA WA EU 8289
    VAR_0172554
    Renal tubular acidosis, distal, autosomal recessive (RTADR)4--see VAR_0172552 P L mis40--------
    VAR_0209954
    Renal tubular acidosis, distal, autosomal recessive (RTADR)4--see VAR_0209952 R H mis40--------
    VAR_0172574
    Renal tubular acidosis, distal, autosomal recessive (RTADR)4--see VAR_0172572 G R mis40--------
    VAR_0209934
    Renal tubular acidosis, distal, autosomal recessive (RTADR)4--see VAR_0209932 G D mis40--------
    rs2676066711,2
    Cpathogenic1141753952(-) ATGTCA/GGGGAT 6 R G mis10--------
    rs1219083671,2
    Cpathogenic1141763081(-) ATGCAC/TGTGAG 6 Q * stg11Minor allele frequency- T:0.00NA 4552
    rs676659321,2
    C--132792278(+) GCACA-/TACAAAC 1 -- us2k11Minor allele frequency- TA:0.00NA 2
    rs341433971,2
    C--137742867(+) CTACCA/-AAAAA 3 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for ATP6V0A4 (138391039 - 138484305 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATP6V0A4 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735212CNV Deletion23290073
    esv1086375CNV Deletion17803354
    esv2735226CNV Deletion23290073
    esv2735223CNV Deletion23290073
    esv2735224CNV Deletion23290073
    esv1418023CNV Deletion17803354
    esv2735225CNV Deletion23290073
    esv1494986CNV Insertion17803354
    nsv366558CNV Insertion16902084
    esv1054907CNV Insertion17803354

    Human Gene Mutation Database (HGMD): ATP6V0A4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V0A4
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V0A4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605239   
    OMIM disorders: 602722  
    UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for ATP6V0A4:    
    About MalaCards
    renal tubular acidosis, distal, autosomal recessive    renal tubular acidosis, distal    medullary sponge kidney    renal tubular acidosis

    4 diseases from the University of Copenhagen DISEASES database for ATP6V0A4:
    Renal tubular acidosis     Sensorineural hearing loss     Nephrocalcinosis     Metabolic acidosis

    Find genes that share disorders with ATP6V0A4           About GenesLikeMe

    2 Novoseek inferred disease relationships for ATP6V0A4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    renal tubular acidosis, distal, autosomal recessive 97.2 2 16611712 (1), 11495928 (1)
    distal renal tubular acidosis 94.1 9 14638902 (3), 16611712 (1), 17595521 (1), 10973252 (1) (see all 5)

    Genetic Association Database (GAD): ATP6V0A4
    Human Genome Epidemiology (HuGE) Navigator: ATP6V0A4 (1 document)

    Export disorders for ATP6V0A4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP6V0A4 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with ATP6V0A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116- kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. (PubMed id 10973252)1, 2, 3, 9 Smith A.N....Karet F.E. (Nat. Genet. 2000)
    2. Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. (PubMed id 21326311)1, 4 Bhatnagar P....Keefer J.R. (J. Hum. Genet. 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    6. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. (PubMed id 12414817)1, 2 Stover E.H.... Karet F.E. (J. Med. Genet. 2002)
    7. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. (PubMed id 10577919)1, 3 Karet F.E....Lifton R.P. (Am. J. Hum. Genet. 1999)
    8. Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. (PubMed id 14638902)1, 9 Stehberger P.A....Wagner C.A. (J. Am. Soc. Nephrol. 2003)
    9. Function of a subunit isoforms of the V-ATPase in pH homeostasis and in vitro invasion of MDA-MB231 human breast cancer cells. (PubMed id 19366680)1, 9 Hinton A....Forgac M. (J. Biol. Chem. 2009)
    10. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. (PubMed id 19639346)1, 9 Andreucci E....Pela I. (Pediatr. Nephrol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50617 HGNC: 866 AceView: ATP6V0A4 Ensembl:ENSG00000105929 euGenes: HUgn50617
    ECgene: ATP6V0A4 Kegg: 50617 H-InvDB: ATP6V0A4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATP6V0A4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP6V0A4[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP6V0A4 gene:
    Search GeneIP for patents involving ATP6V0A4

    GeneCards and IP:
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