ATP6V0A4 Gene
protein-coding GIFtS: 61
GCID: GC07M138391
|
|
ATPase, H+ transporting, lysosomal V0 subunit a4(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATP6N1B, ATP6N2, RTA1C)
| |
Aliases
for ATP6V0A4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATPase, H+ Transporting, Lysosomal V0 Subunit A41 2 | | A42 | | ATP6N1B1 2 3 5 | | STV12 | | ATP6N21 2 3 | | VPH12 | | RTA1C1 2 5 | | ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-CatalyticAccessory Protein 2 (38kD)2 | | RTADR1 2 5 | | H(+)-Transporting Two-Sector ATPase, Noncatalytic Accessory Protein 1B2 | | VPP21 2 5 | | V-ATPase 116 KDa2 | | RDRTA21 2 | | V-Type Proton ATPase 116 KDa Subunit A2 | | ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-CatalyticAccessory Protein 1B1 2 | | V-Type Proton ATPase 116 KDa Subunit A Isoform 42 | | Vacuolar Proton Translocating ATPase 116 KDa Subunit A Kidney Isoform2 3 | | Vacuolar Proton Pump 116 KDa Accessory Subunit2 | | Stv11 | | Vacuolar Proton Pump, Subunit 22 | | Vph11 | | V-ATPase 116 KDa Isoform A43 | | A42 | | Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 43 | | ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 41 | | |
Export aliases for ATP6V0A4 gene to outside databasesPrevious GC identifers: GC07M136731 GC07M137791 GC07M137805 GC07M137848 GC07M138041 GC07M132702 |
Summaries
for ATP6V0A4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ATP6V0A4:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification ofintracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellularprocesses as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradientgeneration. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists ofthree A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATPcatalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of fourgenes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variantsencoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosisassociated with preserved hearing. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4Function: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urineby the kidney (By similarity)
 summary
for ATP6V0A4: 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
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for ATP6V0A4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 7q34ATP6V0A4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for ATP6V0A4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 membraneperipheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunitsA-H, whereas V0 includes subunits a, d, c, c', and c''
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Note=Present at high density almostexclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron
Secondary accessions: A4D1R4 A8KA80 Q32M47Explore the universe of human proteins at neXtProt for ATP6V0A4: NX_Q9HBG4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9HBG4
ATP6V0A4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_065683.2 NP_570855.2 NP_570856.2
ENSEMBL proteins: ENSP00000308122 ENSP00000253856 ENSP00000376774 Reactome Protein details: Q9HBG4
Human Recombinant Protein Products:
Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table
ATP6V0A4 for ontologies About GeneDecksing
ATP6V0A4 Antibody Products:
Assay Products for ATP6V0A4: |
Protein
Domains /
Families
for ATP6V0A4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATP6V0A4 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9HBG4ProtoNet protein and cluster: Q9HBG4 2 Blocks protein families: IPB002490 V-type ATPase IPB011072 Protein kinase PKN/PRK1
UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4Similarity: Belongs to the V-ATPase 116 kDa subunit family |
Function
for ATP6V0A4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4Function: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urineby the kidney (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A4 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A4 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): ATP6V0A4 (NM_020632) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP6V0A4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0A4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0A4 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ATP6V0A4 for ontologies About GeneDecksing
Animal Models:
8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Atp6v0a4):
ATP6V0A4 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ATP6V0A4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Insulin receptor recycling | | | 2 | Disease | | | 3 | Rheumatoid arthritis | | | 4 | Tuberculosis | | | 5 | Lysosome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/9 
Reactome Pathways for ATP6V0A4 (see all 9)
5/9 
Kegg Pathways (Kegg details for ATP6V0A4) (see all 9):
ATP6V0A4 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP6V0A4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/81 Interacting proteins for ATP6V0A4 (Q9HBG43 ENSP000002538564) via UniProtKB, MINT, STRING, and/or I2D (see all 81)About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table
ATP6V0A4 for ontologies About GeneDecksing
|
Drugs & Compounds
for ATP6V0A4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Compounds for ATP6V0A4 available from Tocris Bioscience About this table
5 HMDB Compounds for ATP6V0A4 About this table
Search CenterWatch for drugs/clinical trials and news about ATP6V0A4 / VPP4
|
Transcripts
for ATP6V0A4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_0206327 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000310018(uc003vug.3 uc003vuh.3) ENST00000353492 ENST00000471085
ENST00000478480 ENST00000483139 ENST00000479909 ENST00000393054(uc003vuf.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A4 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A4 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): ATP6V0A4 (NM_020632) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP6V0A4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0A4 |
Additional cDNA sequence: AF245517.1 AK055789.1 AK292945.1 BC109304.1 BC109305.1 4 DOTS entries: DT.308971 DT.91951018 DT.95154720 DT.40119576 24/36 AceView cDNA sequences (see all 36): CB853365 AF245517 NM_020632 NM_130840 BM764852 AA864691 AA995090 AK055789 NM_130841 BX486706 AA441916 AI302408 CD630250 AA442025 BU155342 CD630254 CD630248 BX486766 BU178313 BI765487 BF515545 BG696616 BU183444 BX108597
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
|
Expression
for ATP6V0A4 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATP6V0A4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See ATP6V0A4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP6V0A4
SOURCE GeneReport for Unigene cluster: Hs.98967
UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4Tissue specificity: Expressed in adult and fetal kidney. Found in the inner ear
SABiosciences Custom PCR Arrays for ATP6V0A4
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP6V0A4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V0A4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V0A4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V0A4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0A4 |
Orthologs
for ATP6V0A4 gene
(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)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ATP6V0A4 gene from 7/35 species (see all 35) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ATP6V0A41 |
ATPase, H+ transporting, lysosomal V0 subunit a4 |
73.73(n)
78.1(a) |
|
418104 NM_001080102.2 NP_001073571.2 |
lizard
(Anolis carolinensis) |
Reptilia |
--ATP6V0A46 |
-- |
94(a)72(a) |
possible ortholog1 ↔ 1 |
5(16458847-16459788) 5(14889006-14913624) |
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
58.58(n)1
53.78(a)1 |
|
98F123
422161 NM_142465.11 NP_650722.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
ZK637.8f3 |
TJ6/proton pump |
51(a)
(best of 7) |
|
-- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
VHA-A21 |
V-type H+-transporting ATPase subunit I |
52.51(n)
45.91(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
for ATP6V0A4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATP6V0A4 gene
- TCIRG12 ATP6V0A22 ATP6V0A12
5 SIMAP similar genes for ATP6V0A4 using alignment to 1 protein entry: VPP4_HUMAN:DKFZp781J1951 DKFZp686N0561 ATP6V0A1 ATP6V0A2 TCIRG1
ATP6V0A4 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ATP6V0A4
PGOHUM00000244092
|
Genomic Variants
for ATP6V0A4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ATP6V0A4 (138391039 - 138484305 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ATP6V0A4
3 Indels: 28464 60680 28465
Human Gene Mutation Database (HGMD): ATP6V0A4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP6V0A4 |
|
Disorders
/ Diseases
for ATP6V0A4 gene
(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.)
About This Section
|
ATP6V0A4 for disorders About GeneDecksing
OMIM gene information: 605239
OMIM disorders: 602722
UniProtKB/Swiss-Prot: VPP4_HUMAN, Q9HBG4
Defects in ATP6V0A4 are the cause of distal renal tubular acidosis with preserved hearing (RTADR)[MIM:602722]. RTADR is an autosomal recessive form of distal renal tubular acidosis (dRTA), a group of disorderscharacterized by functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron,where vectorial proton transport is required for urinary acidification. Functional failure of alpha-intercalated cellsresults in metabolic acidosis accompanied by disturbances of potassium balance, urinary calcium solubility, bonephysiology and growth
18  diseases for ATP6V0A4: About MalaCardsrenal tubular acidosis renal tubular acidosis, distal, autosomal recessive renal tubular acidosis, distal enlarged vestibular aqueduct
osteopetrosis medullary sponge kidney inferior myocardial infarction sensorineural hearing loss
hearing loss nephrocalcinosis myocardial infarction rheumatoid arthritis
cholera neurodegeneration arthritis breast cancer
tuberculosis malaria
4 diseases from the University of Copenhagen DISEASES database for ATP6V0A4:Renal tubular acidosis Sensorineural hearing loss Nephrocalcinosis Metabolic acidosis 2 Novoseek disease relationships for ATP6V0A4 gene About this table
Human Genome Epidemiology (HuGE) Navigator: ATP6V0A4 (1 document)
Export disorders for ATP6V0A4 gene to outside databases
|
Publications
for ATP6V0A4 gene (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)
About This Section
|
PubMed articles for ATP6V0A4 gene, integrated from 9 sources (see all 43):
(articles sorted by number of sources associating them with ATP6V0A4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2000)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
- 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. (2002)
- 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. (1999)
- 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. (2003)
- 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. (2009)
- Inner ear abnormalities in four patients with dRTA an d SNHL: clinical and genetic heterogeneity. (PubMed id 19639346)1, 9 Andreucci E....Pela I. (2009)
- Novel mutations in ATP6V0A4 are associated with atypic al progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis. (PubMed id 22093743)1 Li X....Yang T. (2012)
- The renal v-ATPase a4 subunit is expressed in specific subtypes of human gliomas. (PubMed id 22460948)1 Gleize V....Morel N. (2012)
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External Searches for ATP6V0A4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ATP6V0A4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ATP6V0A4 gene
(According to HUGE)
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Specialized Databases showing ATP6V0A4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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| Name | Description |
| PharmGKB entry for ATP6V0A4 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V0A4 |
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| Patent Information for ATP6V0A4 gene:
Search GeneIP for patents involving ATP6V0A4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for ATP6V0A4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for ATP6V0A4 | | OriGene shRNA RFP for ATP6V0A4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP6V0A4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP6V0A4 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ATP6V0A4 | | OriGene 3'-UTR Clone for ATP6V0A4 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ATP6V0A4 | | OriGene Custom Protein Services for ATP6V0A4 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATP6V0A4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP6V0A4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V0A4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V0A4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V0A4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V0A4 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0A4 |
|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0A4 |
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