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ATP6V1C1 Gene

protein-coding   GIFtS: 65
GCID: GC08P104033

ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATP6D, ATP6C)
  Search for ATP6V1C1
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 42kDa, V1 Subunit C11 2     H+ -ATPase C Subunit2
ATP6C1 2 3 5     H+-Transporting ATPase Chain C, Vacuolar2
ATP6D1 2 3 5     Subunit C Of Vacuolar Proton-ATPase V1 Domain2
Vacuolar Proton Pump Subunit C 12 3     V-ATPase C Subunit2
VATC2 3     V-Type Proton ATPase Subunit C 12
V-ATPase Subunit C 12 3     Vacuolar ATP Synthase Subunit C2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 42kD1     Vacuolar Proton Pump C Subunit2
ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C, Isoform 11     Vacuolar Proton Pump, 42-KD Subunit2
Vma52     Vacuolar Proton-ATPase, Subunit C, VI Domain2
H(+)-Transporting Two-Sector ATPase, Subunit C2     

External Ids:    HGNC: 8561   Entrez Gene: 5282   Ensembl: ENSG000001550977   OMIM: 6030975   UniProtKB: P212833   

Export aliases for ATP6V1C1 gene to outside databases

Previous GC identifers: GC08P103038 GC08P104101 GC08P103702 GC08P103989 GC08P104102 GC08P099233


(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 ATP6V1C1 Gene:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of
intracellular compartments of eukaryotic cells. V-ATPase dependent 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively
spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is
found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously,
this gene was designated ATP6D. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V1C1 Gene:
ATP6V1C1 (ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1) is a protein-coding gene. GO annotations related to this gene include transporter activity and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1C2.

UniProtKB/Swiss-Prot: VATC1_HUMAN, P21283
Function: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the
catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is
responsible for acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V1C1 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 ATP6V1C1 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 at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V1C1 gene promoter:
         AhR   AML1a   Pax-2   IRF-1   Pax-2a   Evi-1   Arnt   MEF-2A   HSF2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1C1 promoter sequence
   Search Chromatin IP Primers for ATP6V1C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V1C1


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

Entrez Gene cytogenetic band: 8q22.3   Ensembl cytogenetic band:  8q22.3   HGNC cytogenetic band: 8p22.3

ATP6V1C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1C1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P104033:  view genomic region     (about GC identifiers)

Start:
104,033,248 bp from pter      End:
104,085,285 bp from pter
Size:
52,038 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: VATC1_HUMAN, P21283 (See protein sequence)
Recommended Name: V-type proton ATPase subunit C 1  
Size: 382 amino acids; 43942 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H)
attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d)

Explore the universe of human proteins at neXtProt for ATP6V1C1: NX_P21283

Explore proteomics data for ATP6V1C1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys147
  • Modification sites at PhosphoSitePlus

  • See ATP6V1C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001686.1  
    ENSEMBL proteins: 
     ENSP00000428204   ENSP00000379203   ENSP00000430129   ENSP00000430282  
    Reactome Protein details: P21283

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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: C1
    V-type ATPase

    1 InterPro protein domain:
     IPR004907 ATPase_V1-cplx_csu

    Graphical View of Domain Structure for InterPro Entry P21283

    ProtoNet protein and cluster: P21283

    1 Blocks protein domain: IPB004907 V-ATPase subunit C

    UniProtKB/Swiss-Prot: VATC1_HUMAN, P21283
    Similarity: Belongs to the V-ATPase C subunit family


    Find genes that share domains with ATP6V1C1           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: VATC1_HUMAN, P21283
    Function: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the
    catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. 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:0005215transporter activity NAS8250920
    GO:0005515protein binding IPI16415858
    GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanism IEA--
    GO:0015078hydrogen ion transmembrane transporter activity ----
    GO:0046961proton-transporting ATPase activity, rotational mechanism TAS8250920
         
    Find genes that share ontologies with ATP6V1C1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP6V1C1:
     Increased gamma-H2AX phosphory 

    Animal Models:
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    nucleus2
    peroxisome2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ISS--
    GO:0016469proton-transporting two-sector ATPase complex TAS8250920

    Find genes that share ontologies with ATP6V1C1           About GenesLikeMe


    (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 ATP6V1C1 About   (see all 10)  
    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


    Find genes that share SuperPaths with ATP6V1C1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for ATP6V1C1
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V1C1) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V1C1
    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1C1

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

    Selected Interacting proteins for ATP6V1C1 (P212831, 3 ENSP000003792034) via UniProtKB, MINT, STRING, and/or I2D (see all 160)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    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 TAS8250920
    GO:0033572transferrin transport TAS--

    Find genes that share ontologies with ATP6V1C1           About GenesLikeMe



    (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 Small Molecules at EMD Millipore
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    Compounds for ATP6V1C1 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 ATP6V1C1    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--

    1 DrugBank Compound for ATP6V1C1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    D-tartaric acid(-)-Tartaric acid (see all 7)147-71-7target--10592235



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATP6V1C1 gene (2 alternative transcripts): 
    NM_001695.4  NM_001007254.1  

    Unigene Cluster for ATP6V1C1:

    ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1
    Hs.86905  [show with all ESTs]
    Unigene Representative Sequence: NM_001695
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000518857 ENST00000395862(uc003ykz.4 uc010mbz.3 uc003yla.3 uc011lhl.2)
    ENST00000521514 ENST00000518738 ENST00000521671 ENST00000518959
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    Additional mRNA sequence: 

    AK000064.1 AK090702.1 AK298617.1 AK308632.1 BC010960.1 BX648079.1 J05682.1 X69151.1 

    9 DOTS entries:

    DT.316485  DT.452440  DT.95095236  DT.100645962  DT.75102277  DT.100645963  DT.95091677  DT.95091679 
    DT.97822793 

    Selected AceView cDNA sequences (see all 277):

    BM726632 AA970447 AL135257 AA687883 AA242809 AA242944 CB159187 AA329805 
    BG290471 CD694839 CA313734 BM015777 AA025861 BM456002 BQ433376 BQ425396 
    BM724211 BQ708428 BP375904 BC010960 AL707773 NM_001695 CR609104 BM842414 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1C1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:              -                                               -                                 
    SP2:                                                              -                                 
    SP3:                                                                                                


    ECgene alternative splicing isoforms for ATP6V1C1

    (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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    ATP6V1C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTAAAGAA
    ATP6V1C1 Expression
    About this image


    ATP6V1C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Neural Tube (Nervous System)
             Telencephalon
    ATP6V1C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.86905

    UniProtKB/Swiss-Prot: VATC1_HUMAN, P21283
    Tissue specificity: Ubiquitous

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1C1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1c11 , 5 ATPase, H+ transporting, lysosomal V1 subunit C11, 5 89.44(n)1
    98.17(a)1
      15 (15.18 cM)5
    663351  NM_025494.31  NP_079770.21 
     386619045 
    chicken
    (Gallus gallus)
    Aves ATP6V1C11 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit more 83.6(n)
    94.5(a)
      420259  XM_004939983.1  XP_004940040.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1C16
    ATPase, H+ transporting, lysosomal 42kDa, V1 subun...
    94(a)
    1 ↔ 1
    4(13777679-13805823)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA791486.12   -- 82.56(n)    CA791486.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6v1c12 ATPase, H+ transporting, lysosomal, V1 subunit C, isoform more 79.81(n)   368907  BC053214.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha441 , 3 proton transport hydrogen-transporting
    two-sector more3
    Vacuolar H[+] ATPase 44kD C subunit1
    63(a)3
    60.79(n)1
    65(a)1
      368261  NM_057918.41  NP_477266.11 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-116
    Protein VHA-11, isoform a (vha-11) mRNA, complete ...
    55(a)
    1 → many
    IV(2307815-2314567) WBGene00006920
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA51 VMA5 48.35(n)
    39.34(a)
      853782   NP_012843.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DET31 DET3 49.24(n)
    40.16(a)
      837840  NM_101154.3  NP_563916.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g05931001 Os05g0593100 49.37(n)
    42.16(a)
      4339800  NM_001063035.1  NP_001056500.1 


    ENSEMBL Gene Tree for ATP6V1C1 (if available)
    TreeFam Gene Tree for ATP6V1C1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V1C1 gene
    ATP6V1C22  
    1 SIMAP similar gene for ATP6V1C1 using alignment to 2 protein entries:     VATC1_HUMAN (see all proteins):
    ATP6V1C2

    Find genes that share paralogs with ATP6V1C1           About GenesLikeMe



    (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 ATP6V1C1 (see all 1120)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1435998591,2
    --104031263(+) CTCCCA/CCCTCA 1 -- us2k10--------
    rs1924367741,2
    --104031364(+) AATTAC/GAGCTA 1 -- us2k10--------
    rs30191631,2
    C,F,H--104031391(+) CTGTTA/GTACTG 1 -- us2k123Minor allele frequency- G:0.34NS EA NA WA CSA 2147
    rs1832954641,2
    --104031543(+) AACCCA/GTCTCT 1 -- us2k10--------
    rs1471935641,2
    --104031577(+) GGTGTA/GATGGT 1 -- us2k10--------
    rs1887400051,2
    --104031595(+) TGTAGA/TCCCAG 1 -- us2k10--------
    rs1405700191,2
    C--104031639(+) AACCCA/GGGAGG 1 -- us2k10--------
    rs1445604361,2
    C--104031668(+) GAGATC/TGCACC 1 -- us2k10--------
    rs30191641,2
    C,F,A--104031741(+) aaaaaA/CCCCCA 1 -- us2k15Minor allele frequency- C:0.18WA CSA NA EA 362
    rs1134615431,2
    F--104031762(+) AGTTGC/TGCGAG 1 -- us2k12Minor allele frequency- T:0.50CSA 4

    HapMap Linkage Disequilibrium report for ATP6V1C1 (104033248 - 104085285 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATP6V1C1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33118CNV Loss17666407
    nsv831413CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V1C1
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    (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: 603097    OMIM disorders: --


    Find genes that share disorders with ATP6V1C1           About GenesLikeMe

    Genetic Association Database (GAD): ATP6V1C1
    Human Genome Epidemiology (HuGE) Navigator: ATP6V1C1 (2 documents)

    Export disorders for ATP6V1C1 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 ATP6V1C1 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with ATP6V1C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PubMed id 8250920)1, 2, 3 van Hille B.... Bilbe G. (Biochem. Biophys. Res. Commun. 1993)
    2. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    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. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332)1, 3 Smith A.N....Karet F.E. (Mol. Cell 2003)
    6. Molecular cloning of cDNA encoding the C subunit of H(+)-ATPase from bovine chromaffin granules. (PubMed id 2147024)1, 2 Nelson H.... Nelson N. (J. Biol. Chem. 1990)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Immunohistochemical localization of C1 subunit of V-ATPase (ATPase C1) in oral squamous cell cancer and normal oral mucosa. (PubMed id 21526910)1 GarcA-a-GarcA-a A....Aguirre-UrA-zar J.M. (amp 2012)
    10. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)

    (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: 528 HGNC: 856 AceView: ATP6V1C1 Ensembl:ENSG00000155097 euGenes: HUgn528
    ECgene: ATP6V1C1 Kegg: 528 H-InvDB: ATP6V1C1

    (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 ATP6V1C1 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 ATP6V1C1 gene:
    Search GeneIP for patents involving ATP6V1C1

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



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