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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP6V0C Gene

protein-coding   GIFtS: 63
GCID: GC16P002563

ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATPL, ATP6C, ATP6L)
 Explore 13 diseases affiliated with
ATP6V0C via our new
 Human Malady Compendium 
Biological research products
for ATP6V0C
    

(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 16kDa, V0 Subunit C1 2     V-ATPase 16 KDa Proteolipid Subunit2 3
ATP6C1 2 3 5     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 16kD1
ATP6L1 2 3 5     VPPC2
ATPL1 2 3     H(+)-Transporting Two-Sector ATPase, 16 KDa Subunit2
VATL1 2     V-Type Proton ATPase 16 KDa Proteolipid Subunit2
Vma31 2     Vacuolar ATP Synthase 16 KDa Proteolipid Subunit2
Vacuolar Proton Pump 16 KDa Proteolipid Subunit2 3     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP6V0C:
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)

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:
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


(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP6V0C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
2,570,219 bp from pter
Size:
6,493 bases      Orientation:
plus strand

(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: 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
Subcellular location: Vacuole membrane; Multi-pass membrane protein
Secondary accessions: Q6FH26

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

Post-translational modifications:

  • Ubiquitinated by RNF182, leading to its degradation via the ubiquitin-proteasome pathway1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P27449

  • ATP6V0C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000454796   ENSP00000329757   ENSP00000454597   ENSP00000456077   ENSP00000457782  
     ENSP00000454868  
    Reactome Protein details: P27449
    Human Recombinant Protein Products: 
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    Novus Biologicals ATP6V0C Protein
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    Uscn Proteins for ATP6V0C

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005774vacuolar membrane IEA--
    GO:0010008endosome membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0030670phagocytic vesicle membrane TAS--
    GO:0033179proton-transporting V-type ATPase, V0 domain IEA--


    ATP6V0C for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP6V0C


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATP6V0C for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002379 ATPase_F0/V0-cplx_csu
     IPR011555 ATPase_V0-cplx_csu_euk
     IPR000245 ATPase_V0-cplx_csu

    Graphical View of Domain Structure for InterPro Entry P27449

    ProtoNet protein and cluster: P27449

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


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


    (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: 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

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    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


    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 

    Animal Models:
         Mouse knock-out Atp6v0ctm1Hka for ATP6V0C
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp6v0c):
     embryogenesis  mortality/aging 

    ATP6V0C for phenotypes           About GeneDecksing


    (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 11About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    Insulin receptor recycling1.00
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Iron uptake and transport0.56
    Collecting duct acid secretion0.68
    Vibrio cholerae infection0.41
    Phagosomal maturation (early endosomal stage)0.64
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2Disease
    Disease1.00
    3Rheumatoid arthritis
    Rheumatoid arthritis1.00
    4Tuberculosis
    Tuberculosis1.00
    5Lysosome
    Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/9        Reactome Pathways for ATP6V0C (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/9         Kegg Pathways  (Kegg details for ATP6V0C) (see all 9):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Collecting duct acid secretion


    ATP6V0C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V0C

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

    5/121 Interacting proteins for ATP6V0C (P274491, 2, 3 ENSP000003297574) via UniProtKB, MINT, STRING, and/or I2D (see all 121)
    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
    RPL9P329693, ENSP000003460224I2D: score=5 STRING: ENSP00000346022
    RPL9P7P329693I2D: score=5 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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:0019048virus-host interaction IEA--


    ATP6V0C for ontologies           About GeneDecksing



    (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
    EMD Millipore small molecules for ATP6V0C:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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]

    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--
    Search CenterWatch for drugs/clinical trials and news about ATP6V0C / VATL 

    (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 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
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000568694 ENST00000330398(uc021tav.1 uc002cqn.3) ENST00000568562
    ENST00000562353 ENST00000565223 ENST00000564973

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    Additional cDNA 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 

    24/585 AceView cDNA sequences (see all 585):

    BU838206 BU617833 CF127865 BU620642 AI962597 AI114460 CR541951 CK430754 
    F30715 CR616464 BG697408 BM820227 BF475400 BX111121 BQ719173 AI262866 
    BU166538 BQ232887 AI140316 CA425429 CA426172 BC007759 CR541930 BQ224964 

    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™, 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

    ATP6V0C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGCAGTGTCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ATP6V0C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    EyeRetinaEye
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATP6V0C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V0C

    SOURCE GeneReport for Unigene cluster: Hs.389107
        SABiosciences Expression via Pathway-Focused PCR Array including ATP6V0C: 
              Drug Transporters in human mouse rat

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V0C gene from 10/40 species (see all 40)    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 78.27(n)
    93.75(a)
      416753  XM_003642168.1  XP_003642216.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V0C6
    --
    82(a)
    1 ↔ 1
    GL343621.1(323132-339202)
    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_057453.41  NP_476801.11 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-23
    vha-11
    Vacuolar ATP synthase subunit3
    Protein VHA-11
    67(a)3
    62.7(n)1
    64.34(a)1
      III(9853715-9854585)3
    1763831  NM_066764.41  NP_499165.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA11(YPL234C)4
    VMA31
    Vacuolar ATPase V0 domain subunit c', involved in proton more4
    Vma3p1
    59.23(n)1
    71.62(a)1
      16(105440-104946)4
    8566861  NP_010887.31  8558424 
     NP_015090.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATVHA-C16
    AT2G165106
    (see all 5)
    V-type proton ATPase proteolipid subunit c1/c3/c5
    (see all 5)
    59(a)
    59(a)
    (see all 5)
    many → 1
    many → 1
    (see all 5)
    4(16567824-16569295)
    2(7159629-7160892)
    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)
    About This Section
    Paralogs for ATP6V0C gene
    2 SIMAP similar genes for ATP6V0C using alignment to 4 protein entries:     VATL_HUMAN (see all proteins):
    ATP6C    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, 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

    10/115 NCBI SNPs in ATP6V0C are shown (see all 115    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1127312991,2
    C,--2496652(+) GGTGCC/AGGGTG 1 -- int11Minor allele frequency- A:0.50WA 2
    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
    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,--2562540(+) AGGAGC/GTGGAG 2 -- us2k12Minor allele frequency- G:0.06WA 120
    rs1827034981,2
    --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 - 2570219 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ATP6V0C
         3 CNVs: 4918 3988 5329

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    ATP6V0C for disorders           About GeneDecksing

    OMIM gene information: 108745    OMIM disorders: --

    13 diseases for ATP6V0C:    About MalaCards
    osteopetrosis    autism spectrum disorder    polycystic kidney disease    kidney disease
    rheumatoid arthritis    cholera    twinning    neurodegeneration
    arthritis    breast cancer    pneumonia    tuberculosis
    malaria

    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)
    About This Section

    PubMed articles for ATP6V0C gene, integrated from 9 sources (see all 35):
    (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. (1991)
    2. A novel brain-enriched E3 ubiquitin ligase RNF182 is up regulated in the brains of Alzheimer's patients and targets ATP6V0C for degr adation. (PubMed id 18298843)1, 2 Liu Q.Y....Liu R. (2008)
    3. 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)
    4. 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. (2001)
    5. 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. (1995)
    6. 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. (1993)
    7. 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. (1992)
    8. 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. (2009)
    9. 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. (2002)
    10. A cytotoxic type III secretion effector of Vibrio para haemolyticus targets vacuolar H+-ATPase subunit c and ruptures host cell lysosom es. (PubMed id 22829766)1 Matsuda S....Iida T. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 527 HGNC: 855 AceView: ATP6V0CandCGI-14andKIAA1171 Ensembl:ENSG00000185883 euGenes: HUgn527
    ECgene: ATP6V0C Kegg: 527 H-InvDB: ATP6V0C

    (According to HUGE)
    About This Section
      --

    (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
    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.)
    About This Section
    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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