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

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)
Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  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:
2,570,224 bp from pter
Size:
6,498 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for ATP6V0C at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated by RNF182, leading to its degradation via the ubiquitin-proteasome pathway
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P27449

  • ATP6V0C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V0C Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001185498.1  NP_001685.1  

    ENSEMBL proteins: 
     ENSP00000329757   ENSP00000454597   ENSP00000457782   ENSP00000454868  
    Reactome Protein details: P27449
    Human Recombinant Protein Products for ATP6V0C: 
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    Novus Biologicals ATP6V0C Protein
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    Cloud-Clone Corp. Proteins for ATP6V0C 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005774vacuolar membrane ----
    GO:0010008endosome membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0030670phagocytic vesicle membrane TAS--

    ATP6V0C for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for ATP6V0C 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATP6V0C

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP6V0C 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP6V0C 

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    SwitchGear 3'UTR luciferase reporter plasmidATP6V0C 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP6V0C About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.79
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Phagosomal maturation (early endosomal stage)0.64
    Iron uptake and transport0.69
    Vibrio cholerae infection0.41
    Collecting duct acid secretion0.68
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2IRS-related events
    Signaling by Insulin receptor0.79
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.55
    5SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    5/10         Kegg Pathways  (Kegg details for ATP6V0C) (see all 10):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    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)

    5/124 Interacting proteins for ATP6V0C (P274491, 2, 3 ENSP000003297574) via UniProtKB, MINT, STRING, and/or I2D (see all 124)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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:0019048modulation by virus of host morphology or physiology IEA--

    ATP6V0C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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]
    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--

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

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330398(uc021tav.1 uc002cqn.3) ENST00000568562 ENST00000565223
    ENST00000564973
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

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

    CR601237 BQ646640 CR622720 BU509149 BM928304 BU956550 F30715 CR616464 
    CR599309 BQ229305 AI262866 BU166538 BG697408 BC007759 BQ949611 AI480037 
    CK430754 BM820227 BF475400 BQ719173 BQ232887 BX111121 AI140316 CA426172 

    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)      ATP6V0C embryonic expression: see
    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 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Cerebral Cortex
             ganglion/cranial/facial VII   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   
     
     Eye (Sensory Organs)
             Retina
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    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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    (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 10/26 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 78.27(n)
    93.75(a)
      416753  XM_003642168.1  XP_003642216.1 
    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_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 
    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)
    About This Section
    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) 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

    10/108 SNPs in ATP6V0C are shown (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) 10/12 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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 108745    OMIM disorders: --

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


    ATP6V0C for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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)
    About This Section

    PubMed articles for ATP6V0C gene, integrated from 9 sources (see all 38):
    (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 common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (2009)
    3. 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)
    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. (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. (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. (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. (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. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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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    About This Section

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