ATP6V0A1 Gene
protein-coding GIFtS: 64
GCID: GC17P040610
|
|
ATPase, H+ transporting, lysosomal V0 subunit a1(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: VPP1, ATP6N1, ATP6N1A)
| |
Aliases
for ATP6V0A1 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 A11 2 | | ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 11 | | ATP6N1A1 2 3 5 | | ATPase, H+ Transporting, Lysosomal Non-Catalytic Accessory Protein 1(110/116kD)2 | | VPP11 2 3 5 | | H(+)-Transporting Two-Sector ATPase, 116 KDa Accessory Protein A12 | | ATP6N11 2 3 | | V-ATPase 116 KDa2 | | Stv11 2 | | V-Type Proton ATPase 116 KDa Subunit A2 | | Vph11 2 | | V-Type Proton ATPase 116 KDa Subunit A Isoform 12 | | A11 | | Vacuolar Proton Pump, Subunit 12 | | ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-CatalyticAccessory Protein 1A (110/116kD)1 2 | | Vacuolar Proton Translocating ATPase 116 KDa Subunit A2 | | Clathrin-Coated Vesicle/Synaptic Vesicle Proton Pump 116 KDa Subunit2 3 | | Vacuolar-Type H(+)-ATPase 115 KDa Subunit2 | | Vacuolar Adenosine Triphosphatase Subunit Ac1162 3 | | V-ATPase 116 KDa Isoform A13 | | Vacuolar Proton Pump Subunit 12 3 | | Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 13 |
Export aliases for ATP6V0A1 gene to outside databasesPrevious GC identifers: GC17M040234 GC17M042848 GC17P040519 GC17P040984 GC17P037864 GC17P036375 |
Summaries
for ATP6V0A1 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 ATP6V0A1:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification ofeukaryotic intracellular organelles. V-ATPase dependent organelle 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. Additional isoforms of many ofthe V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This geneencodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Threetranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: VPP1_HUMAN, Q93050Function: Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting andregulation of the enzyme for a specific organelle (By similarity)
 summary
for ATP6V0A1: 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 ATP6V0A1 (ATPase, H+ transporting, lysosomal V0 subunit a1)
|
Genomic Views
for ATP6V0A1 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_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATP6V0A1 gene promoter:
HOXA9B HOXA9 NRSF form 1 FOXD3 Olf-1 E4BP4 NRSF form 2 Pax-4a Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATP6V0A1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V0A1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q21ATP6V0A1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P040610: view genomic region
(about GC identifiers)
Start:
|
40,610,862 bp from pter |
End:
|
40,674,629 bp from pter |
Size:
|
63,768 bases |
Orientation:
|
plus strand |
|
Proteins
for ATP6V0A1 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: VPP1_HUMAN, Q93050 (See
protein sequence)Recommended Name: V-type proton ATPase 116 kDa subunit a isoform 1 Size: 837 amino acids; 96413 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: Cytoplasmic vesicle membrane; Multi-pass membrane protein. Melanosome. Note=Coated vesicle.Identified by mass spectrometry in melanosome fractions from stage I to stage IV
Secondary accessions: B7Z3B7 Q8N5G7 Q9NSX0Alternative splicing: 3 isoforms: Q93050-2 Q93050-1 Q93050-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ATP6V0A1: NX_Q93050
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q93050
ATP6V0A1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001123492.1 NP_001123493.1 NP_005168.2
ENSEMBL proteins: ENSP00000377415 ENSP00000468001 ENSP00000443991 ENSP00000264649 ENSP00000466878 ENSP00000342951 ENSP00000467373 ENSP00000466328 ENSP00000466290 ENSP00000466767 ENSP00000468169 ENSP00000468177 ENSP00000466852 ENSP00000444676 ENSP00000446377 Reactome Protein details: Q93050
Human Recombinant Protein Products:
Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table
ATP6V0A1 for ontologies About GeneDecksing
ATP6V0A1 Antibody Products:
Assay Products for ATP6V0A1: |
Protein
Domains /
Families
for ATP6V0A1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATP6V0A1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q93050ProtoNet protein and cluster: Q93050 1 Blocks protein family: IPB002490 V-type ATPase
UniProtKB/Swiss-Prot: VPP1_HUMAN, Q93050Similarity: Belongs to the V-ATPase 116 kDa subunit family |
Function
for ATP6V0A1 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: VPP1_HUMAN, Q93050Function: Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting andregulation of the enzyme for a specific organelle (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 ATP6V0A1 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A1 (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): ATP6V0A1 (NM_001130020) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP6V0A1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0A1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0A1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ATP6V0A1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for ATP6V0A1:
|
Pathways & Interactions
for ATP6V0A1 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 ATP6V0A1 (see all 9)
5/9 
Kegg Pathways (Kegg details for ATP6V0A1) (see all 9):
ATP6V0A1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP6V0A1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/122 Interacting proteins for ATP6V0A1 (Q930503 ENSP000002646494) via UniProtKB, MINT, STRING, and/or I2D (see all 122)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006879 | cellular iron ion homeostasis |
TAS | -- | | GO:0008286 | insulin receptor signaling pathway |
TAS | -- | | GO:0015991 | ATP hydrolysis coupled proton transport |
IEA | -- | | GO:0033572 | transferrin transport |
TAS | -- | | GO:0051701 | interaction with host |
TAS | -- |
ATP6V0A1 for ontologies About GeneDecksing
|
Drugs & Compounds
for ATP6V0A1 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 ATP6V0A1 available from Tocris Bioscience About this table
Search CenterWatch for drugs/clinical trials and news about ATP6V0A1 / VPP1
|
Transcripts
for ATP6V0A1 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 ATP6V0A1 gene (3 alternative transcripts): NM_001130020.1 NM_001130021.1 NM_005177.3 Unigene Cluster for ATP6V0A1: ATPase, H+ transporting, lysosomal V0 subunit a1 Hs.463074 [show with all ESTs]Unigene Representative Sequence: AK12592718/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26): ENST00000393829(uc002hzp.1) ENST00000588629 ENST00000588901 ENST00000537728
ENST00000264649(uc002hzs.3 uc010wgl.2) ENST00000585525 ENST00000343619(uc002hzr.3 uc002hzq.3 uc010wgj.2 uc010wgk.2 uc010cyg.3)
ENST00000589727 ENST00000587824 ENST00000589213 ENST00000592324 ENST00000587375
ENST00000586001 ENST00000587882 ENST00000589759 ENST00000586315 ENST00000587510
ENST00000586201
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A1 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V0A1 (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): ATP6V0A1 (NM_001130020) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP6V0A1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0A1 |
Additional cDNA sequence: AB074282.1 AK098213.1 AK125927.1 AK223554.1 AK294512.1 AK294789.1 AK295682.1 AK299784.1 AK316305.1 AL096733.1 AL137683.1 BC032398.1 BX648978.1 CR627443.1 L78933.1 U18920.1 Z71460.1 24/32 DOTS entries (see all 32): DT.97847533 DT.99968144 DT.100036891 DT.120965912 DT.100796461 DT.100796468 DT.100796467 DT.40115333 DT.448618 DT.91754379 DT.101956252 DT.120965924 DT.91908825 DT.40201424 DT.97795950 DT.120965892 DT.91822904 DT.120965895 DT.120965925 DT.99978987 DT.100683828 DT.120965887 DT.120965910 DT.120965930 24/342 AceView cDNA sequences (see all 342): AA430654 AU119028 BQ706557 BI770167 R69717 BQ720016 CR627443 BQ027467 BM709693 AL536526 AA974587 CB959875 AL137683 AU133509 BU733633 BQ008516 BI324838 BQ717475 CD676138 BX954010 AW014020 BX118141 AU139152 AA258155
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A1 (see all 11) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22a | · | 22b | · | 22c | ^ | 23a | · | 23b | · | 23c | · | 23d | · | 23e | · | 23f |
|---|
|
| SP1: | - | | | | - | | | | | | - | | - | | - | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ATP6V0A1
|
Expression
for ATP6V0A1 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
| ATP6V0A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGCTGTGAG
About this image
See ATP6V0A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP6V0A1
SOURCE GeneReport for Unigene cluster: Hs.463074
SABiosciences Custom PCR Arrays for ATP6V0A1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP6V0A1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V0A1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V0A1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V0A1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0A1 |
Orthologs
for ATP6V0A1 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 ATP6V0A1 gene from 9/36 species (see all 36) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ATP6V0A11 |
ATPase, H+ transporting, lysosomal V0 subunit a1 |
81.12(n)
92.11(a) |
|
395474 NM_204724.1 NP_990055.1 |
lizard
(Anolis carolinensis) |
Reptilia |
ATP6V0A16-- |
-- |
91(a)76(a) |
1 ↔ 1possible ortholog |
6(72361710-72403692) 5(16458847-16459788) |
African clawed frog
(Xenopus laevis) |
Amphibia |
atp6v0a1-prov2 |
ATPase, H+ transporting, lysosomal V0 subunit a isoform more |
77.52(n) |
|
BC041732.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
atp6v0a1b6atp6v0a1a6 |
ATPase, H+ transporting, lysosomal V0 subunit a is...ATPase, H+ transporting, lysosomal V0 subunit a is... |
83(a)82(a) |
1 ↔ many1 ↔ many |
24(7709398-7745576) 3(16542207-16593106) |
fruit fly
(Drosophila melanogaster) |
Insecta |
Vha100-11 , 3 |
hydrogen-transporting two-sector ATPase3
Vacuolar H[+] ATPase subunit 100-11 |
60(a)
(best of 4)3
61.67(n)1
63.39(a)1 |
|
98F123
434421 NM_001170297.11 NP_001163768.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
ZK637.8f3
unc-321 |
TJ6/proton pump3
Protein UNC-321 |
57(a)
(best of 7)3
61.29(n)1
60.73(a)1 |
|
1762571 NM_001027846.11 NP_001023017.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
VPH1(YOR270C)4
VPH11 |
Subunit a of vacuolar-ATPase V0 domain, one of two more4
Vph1p1 |
50.9(n)1
44.4(a)1 |
|
15(830574-828052)4
8544441, 4 NP_014913.31 NP_014913.14 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
VHA-A11 |
V-type H+-transporting ATPase subunit I |
52.06(n)
43.69(a) |
|
817400 NM_179791.1 NP_850122.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.280562 |
Oryza sativa SS281 mRNA for T cell produced protein, more |
71.01(n) |
|
NM_195204.1 |
ENSEMBL Gene Tree for ATP6V0A1 (if available)
TreeFam Gene Tree for ATP6V0A1 (if available) |
Paralogs
for ATP6V0A1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATP6V0A1 gene
- TCIRG12 ATP6V0A22 ATP6V0A42
18/38 SIMAP similar genes for ATP6V0A1 using alignment to 13 protein entries: VPP1_HUMAN (see all proteins)
(see all similar genes):DKFZp781J1951 SHANK2 ZNF461 DKFZp686N0561 AEBP2 AURA2
NSRP1 DNMT1 PLA2G6 CHID1 DCTN5 RNF217
LYRM4 TCEB1 ATP6V0A4 PLEKHH2 ATP6V0A2 MED15
ATP6V0A1 for paralogs About GeneDecksing
|
Genomic Variants
for ATP6V0A1 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 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
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HapMap Linkage Disequilibrium report for ATP6V0A1 (40610862 - 40674629 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATP6V0A1: --
Human Gene Mutation Database (HGMD): ATP6V0A1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP6V0A1 |
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Disorders
/ Diseases
for ATP6V0A1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ATP6V0A1 for disorders About GeneDecksing
OMIM gene information: 192130
OMIM disorders: --
13  diseases for ATP6V0A1: About MalaCardsosteopetrosis renal tubular acidosis fabry disease rheumatoid arthritis
epididymitis hepatoblastoma cholera neurodegeneration
arthritis colorectal cancer hypertension tuberculosis
malaria
1 disease from the University of Copenhagen DISEASES database for ATP6V0A1:Osteopetrosis Human Genome Epidemiology (HuGE) Navigator: ATP6V0A1 (2 documents)
Export disorders for ATP6V0A1 gene to outside databases
|
Publications
for ATP6V0A1 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 ATP6V0A1 gene, integrated from 9 sources (see all 41):
(articles sorted by number of sources associating them with ATP6V0A1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545)1, 2 Basrur V.... Appella E. (2003)
- Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. (PubMed id 7774924)1, 3 Brody L.C....Xu J. (1995)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Inhibition of lysosome degradation on autophagosome fo rmation and responses to GMI, an immunomodulatory protein from Ganoderma microsp orum. (PubMed id 22708544)1 Hsin I.L....Ko J.L. (2012)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- A common genetic variant in the 3'-UTR of vacuolar H+ -ATPase ATP6V0A1 creates a micro-RNA motif to alter chromogranin A processing a nd hypertension risk. (PubMed id 21558123)1 Wei Z....O'Connor D.T. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- ErbB2-associated changes in the lysosomal proteome. (PubMed id 21674799)1 Nylandsted J....Jaattela M. (2011)
|
External Searches for ATP6V0A1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ATP6V0A1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ATP6V0A1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ATP6V0A1 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
|
|
About This Section
| Patent Information for ATP6V0A1 gene:
Search GeneIP for patents involving ATP6V0A1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ATP6V0A1 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
About This Section
|
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