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ATP6V0C Gene

protein-coding   GIFtS: 65
GCID: GC16P002563

ATPase, H+ Transporting, Lysosomal 16kDa, V0 Subunit C

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATPL, ATP6C, ATP6L)
  See 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 16kDa, V0 Subunit C1 2     VATL2
ATP6C1 2 3 5     VPPC2
ATP6L1 2 3 5     Vma32
ATPL1 2 3     H(+)-Transporting Two-Sector ATPase, 16 KDa Subunit2
Vacuolar Proton Pump 16 KDa Proteolipid Subunit2 3     V-Type Proton ATPase 16 KDa Proteolipid Subunit2
V-ATPase 16 KDa Proteolipid Subunit2 3     Vacuolar ATP Synthase 16 KDa Proteolipid Subunit2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 16kD1     Vacuolar H+ ATPase Proton Channel Subunit2

External Ids:    HGNC: 8551   Entrez Gene: 5272   Ensembl: ENSG000001858837   OMIM: 1087455   UniProtKB: P274493   

Export aliases for ATP6V0C gene to outside databases

Previous GC identifers: GC16P002565 GC16P002503


(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 ATP6V0C Gene:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of
eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such
intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic
vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain.
The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The
V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and
d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been
identified on chromosomes 6 and 17. (provided by RefSeq, Nov 2010)

GeneCards Summary for ATP6V0C Gene:
ATP6V0C (ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c) is a protein-coding gene. Diseases associated with ATP6V0C include osteopetrosis, and autism spectrum disorder. GO annotations related to this gene include proton-transporting ATP synthase activity, rotational mechanism and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: VATL_HUMAN, P27449
Function: Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase
is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V0C 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 ATP6V0C 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:
NC_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V0C gene promoter:
         p53   SREBP-1c   CUTL1   SREBP-1b   CREB   POU2F1   SREBP-1a   POU2F1a   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V0C promoter sequence
   Search Chromatin IP Primers for ATP6V0C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V0C


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

ATP6V0C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0C gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P002563:  view genomic region     (about GC identifiers)

Start:
2,563,727 bp from pter      End:
2,570,224 bp from pter
Size:
6,498 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: VATL_HUMAN, P27449 (See protein sequence)
Recommended Name: V-type proton ATPase 16 kDa proteolipid subunit  
Size: 155 amino acids; 15736 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components:
subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the
proteolipid protein; which is present as a hexamer that forms the proton-conducting pore). Interacts with LASS2.
Interacts with HTLV-1 accessory protein p12I. Interacts with RNF182; this interaction leads to ubiquitination and
degradation via the proteasome pathway
Secondary accessions: Q6FH26

Explore the universe of human proteins at neXtProt for ATP6V0C: NX_P27449

Explore proteomics data for ATP6V0C at MOPED

Post-translational modifications: 

  • Ubiquitinated by RNF182, leading to its degradation via the ubiquitin-proteasome pathway1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATP6V0C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001185498.1  NP_001685.1  

    ENSEMBL proteins: 
     ENSP00000329757   ENSP00000454597   ENSP00000457782   ENSP00000454868  
    Reactome Protein details: P27449

    ATP6V0C Human Recombinant Protein Products:

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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: c
    V-type ATPase

    3 InterPro protein domains:
     IPR002379 ATPase_proteolipid_c_like_dom
     IPR011555 ATPase_proteolipid_su_C_euk
     IPR000245 ATPase_proteolipid_csu

    Graphical View of Domain Structure for InterPro Entry P27449

    ProtoNet protein and cluster: P27449

    2 Blocks protein domains:
    IPB000245 Vacuolar ATP synthase 16kD subunit signature
    IPB011555 ATPase


    UniProtKB/Swiss-Prot: VATL_HUMAN, P27449
    Similarity: Belongs to the V-ATPase proteolipid subunit family


    ATP6V0C for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATL_HUMAN, P27449
    Function: Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase
    is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11543633
    GO:0015078hydrogen ion transmembrane transporter activity ----
    GO:0031625ubiquitin protein ligase binding IPI18298843
    GO:0046933proton-transporting ATP synthase activity, rotational mechanism TAS1709739
    GO:0046961proton-transporting ATPase activity, rotational mechanism TAS1709739
         
    ATP6V0C for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ATP6V0C:
     Decreased Hepatitis C virus re  Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 
     Increased HPV18 LCR reporter a 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp6v0c):
     embryogenesis  mortality/aging 

    ATP6V0C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp6v0ctm1Hka for ATP6V0C

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP6V0C
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    miRNA
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    miRTarBase miRNAs that target ATP6V0C:
    hsa-mir-421 (MIRT039438)

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    2 qRT-PCR Assays for microRNAs that regulate ATP6V0C:
    hsa-miR-1197 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidATP6V0C 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): ATP6V0C (NM_001694)
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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
    VATL_HUMAN, P27449: Vacuole membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    vacuole5
    endosome4
    plasma membrane3
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0010008endosome membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0030670phagocytic vesicle membrane TAS--
    GO:0033177proton-transporting two-sector ATPase complex, proton-transporting domain ----

    ATP6V0C for ontologies           About GeneDecksing


    (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 ATP6V0C 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for ATP6V0C
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V0C) (see all 10):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    ATP6V0C for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V0C: 
              Drug Transporters in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP6V0C

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

    Selected Interacting proteins for ATP6V0C (P274491, 2, 3 ENSP000003297574) via UniProtKB, MINT, STRING, and/or I2D (see all 144)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MARK3P274482, 3, ENSP000004113974MINT-63621 I2D: score=5 STRING: ENSP00000411397
    CERS2Q96G231, 3, ENSP000002716884EBI-721179,EBI-1057080 I2D: score=3 STRING: ENSP00000271688
    PDGFRBP096192, 3, ENSP000002617994MINT-6628528 I2D: score=1 STRING: ENSP00000261799
    ENSG00000206445O956703, ENSP000003729954I2D: score=1 STRING: ENSP00000372995
    ENSG00000226850O956703, ENSP000004063724I2D: score=1 STRING: ENSP00000406372
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0015992proton transport TAS1709739
    GO:0016032viral process IEA--

    ATP6V0C for ontologies           About GeneDecksing



    (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 compounds at ApexBio 

    Compounds for ATP6V0C 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]

    4 HMDB Compounds for ATP6V0C    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--
    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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP6V0C gene (2 alternative transcripts): 
    NM_001198569.1  NM_001694.3  

    Unigene Cluster for ATP6V0C:

    ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c
    Hs.389107  [show with all ESTs]
    Unigene Representative Sequence: BM467334
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330398(uc021tav.1 uc002cqn.3) ENST00000568562 ENST00000565223
    ENST00000564973
    miRNA
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    hsa-miR-1197 hsa-miR-340
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      QuantiFast Probe-based Assays in human, mouse, rat ATP6V0C

    Additional mRNA sequence: 

    BC004537.2 BC007389.2 BC007759.2 BC009290.2 BT007155.1 CR541930.1 CR541951.1 M62762.1 

    20 DOTS entries:

    DT.102837014  DT.91766846  DT.85104710  DT.101973294  DT.100830702  DT.100787573  DT.100787561  DT.120680301 
    DT.91766853  DT.95273032  DT.97855864  DT.100787577  DT.100829797  DT.100833867  DT.120680098  DT.120680247 
    DT.85104709  DT.91766851  DT.95273024  DT.95273001 

    Selected AceView cDNA sequences (see all 585):

    CA419705 AI141678 BM561573 BM763817 BU556639 CR597229 CR592409 BU173627 
    AW025951 BU753817 BM924578 AI803669 BM782593 BT007155 CK902754 AW246536 
    BU626209 CA503074 BM843350 CF126196 BQ008755 CA455067 CB528900 BF725822 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0C    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d
    SP1:                    -     -                                 
    SP2:              -     -     -                                 
    SP3:                          -                                 
    SP4:                                                            


    ECgene alternative splicing isoforms for ATP6V0C

    (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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    ATP6V0C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCAGTGTCC
    ATP6V0C Expression
    About this image


    ATP6V0C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Eye (Sensory Organs)
             Lens
    ATP6V0C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V0C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.389107
        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V0C: 
              Drug Transporters in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ATP6V0C
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0C

    (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 ATP6V0C gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v0c1 , 5 ATPase, H+ transporting, lysosomal V0 subunit C1, 5 86.88(n)1
    90.97(a)1
      17 (12.29 cM)5
    119841  NM_009729.31  NP_033859.11 
     241638665 
    chicken
    (Gallus gallus)
    Aves ATP6V0C1 ATPase, H+ transporting, lysosomal 16kDa, V0 subunit more 78.65(n)
    93.46(a)
      416753  NM_001278024.1  NP_001264953.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V0C6
    ATPase, H+ transporting, lysosomal 16kDa, V0 subun...
    92(a)
    1 ↔ 1
    GL343621.1(322520-339362)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644752 hypothetical protein MGC64475 78.43(n)    BC043805.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6v0c2 ATPase, H+ transporting, lysosomal, V0 subunit c 82.72(n)   192336  AY099523.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha163
    Vha16-11
    proton transport hydrogen-transporting
    two-sector more3
    Vacuolar H[+] ATPase subunit 16-11
    81(a)
    (best of 2)3
    74.78(n)1
    82.24(a)1
      42C13
    443071  NM_165476.31  NP_724476.11 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-21 , 3 Vacuolar ATP synthase subunit3
    vha-21
    67(a)3
    64.27(n)1
    67.97(a)1
      III(9853715-9854585)3
    1877791  NM_066765.61  NP_499166.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA11(YPL234C)4
    VMA31
    Vacuolar ATPase V0 domain subunit c', involved in proton more4
    VMA31
    59.23(n)1
    71.62(a)1
      16(105440-104946)4
    8566861  NP_010887.31  8558424 
     NP_015090.14 
    soybean
    (Glycine max)
    eudicotyledons Gma.125042 Transcribed sequence with strong similarity to protein more 74.13(n)  
    rice
    (Oryza sativa)
    Liliopsida Os.59112 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.69(n)    AK099459.1 


    ENSEMBL Gene Tree for ATP6V0C (if available)
    TreeFam Gene Tree for ATP6V0C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V0C gene
    1 SIMAP similar gene for ATP6V0C using alignment to 3 protein entries:     VATL_HUMAN (see all proteins):
    ATP6V0B

    ATP6V0C for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for ATP6V0C
    PGOHUM00000236907 PGOHUM00000243988 PGOHUM00000238132 PGOHUM00000243624


    (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 ATP6V0C (see all 108)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1998561541,2
    --2506004(+) GAGGTC/GAGGCC 2 -- ds50010--------
    rs755445521,2
    C--2562044(+) GCCACC/TGTGCC 2 -- us2k10--------
    rs118619521,2
    C,F,H--2562127(+) AATTCG/AGCCCC 2 -- us2k111Minor allele frequency- A:0.07NS EA NA WA 1370
    rs783274651,2
    C,F--2562390(+) GAGGGC/TGTCTG 2 -- us2k11Minor allele frequency- T:0.02NA 120
    rs778180361,2
    F--2562411(+) AGTCCG/CCAGGA 2 -- us2k11Minor allele frequency- C:0.05NA 120
    rs740030171,2
    C,F--2562540(+) AGGAGC/GTGGAG 2 -- us2k12Minor allele frequency- G:0.06WA 120
    rs1827034981,2
    C--2562587(+) GATTCA/GTCTTC 2 -- us2k10--------
    rs782467641,2
    C,F--2562625(+) GGGAGG/AAGCAG 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs121028051,2
    C,H--2562630(+) GAGCAG/AAAAGG 2 -- us2k16Minor allele frequency- A:0.00NS EA NA 420
    rs1482280671,2
    --2562660(+) GCCTCC/TTCTCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6V0C (2563727 - 2570224 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATP6V0C (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    nsv833122CNV Loss17160897
    nsv905153CNV Loss21882294
    dgv2571n71CNV Loss21882294
    dgv2545n71CNV Loss21882294
    nsv905152CNV Loss21882294
    dgv2569n71CNV Loss21882294
    nsv905149CNV Loss21882294
    nsv905139CNV Loss21882294
    nsv833121CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V0C
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V0C

    (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.)
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    OMIM gene information: 108745    OMIM disorders: --

    12 diseases for ATP6V0C:    
    About MalaCards
    osteopetrosis    autism spectrum disorder    labyrinthitis    polycystic kidney disease
    kidney disease    cholera    pneumonia    tuberculosis
    rheumatoid arthritis    arthritis    cerebritis    breast cancer


    ATP6V0C for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP6V0C
    Human Genome Epidemiology (HuGE) Navigator: ATP6V0C (1 document)

    Export disorders for ATP6V0C 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 ATP6V0C gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with ATP6V0C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel. (PubMed id 1709739)1, 2, 3 Gillespie G.A.J....Reeders S.T. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    3. A novel brain-enriched E3 ubiquitin ligase RNF182 is up regulated in the brains of Alzheimer's patients and targets ATP6V0C for degradation. (PubMed id 18298843)1, 2 Liu Q.Y.... Liu R. (Mol. Neurodegener. 2008)
    4. 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. (Genome Res. 2004)
    5. Cloning, mapping, and characterization of a human homologue of the yeast longevity assurance gene LAG1. (PubMed id 11543633)1, 2 Pan H....Gu J.-R. (Genomics 2001)
    6. Mapping of the intermolecular association of human T cell leukaemia/lymphotropic virus type I p12I and the vacuolar H+-ATPase 16 kDa subunit protein. (PubMed id 7636472)1, 2 Koralnik I.J.... Franchini G. (J. Gen. Virol. 1995)
    7. Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PubMed id 8250920)1, 3 van Hille B.... Bilbe G. (Biochem. Biophys. Res. Commun. 1993)
    8. Vacuolar type H(+)-ATPase genes: presence of four genes including pseudogenes for the 16-kDa proteolipid subunit in the human genome. (PubMed id 1532310)1, 2 Hasebe M.... Futai M. (Biochem. Biophys. Res. Commun. 1992)
    9. Small interfering RNA targeting the subunit ATP6L of proton pump V-ATPase overcomes chemoresistance of breast cancer cells. (PubMed id 19299075)1, 9 You H....Qin W. (Cancer Lett. 2009)
    10. Chromosomal localization of three vacuolar-H+ -ATPase 16 kDa subunit (ATP6V0C) genes in the murine genome. (PubMed id 12438748)1, 9 Simckes A.M....White R.A. (Cytogenet. Genome Res. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 527 HGNC: 855 AceView: ATP6V0CandCGI-14andKIAA1171 Ensembl:ENSG00000185883 euGenes: HUgn527
    ECgene: ATP6V0C Kegg: 527 H-InvDB: ATP6V0C

    (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)
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    NameDescription
    PharmGKB entry for ATP6V0C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP6V0C gene:
    Search GeneIP for patents involving ATP6V0C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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