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

ATP6V1C1 Gene

protein-coding   GIFtS: 62
GCID: GC08P104033

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATP6D, ATP6C)
 Explore 13 diseases affiliated with
ATP6V1C1 via our new
 Human Malady Compendium 
Biological research products
for ATP6V1C1
    

(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 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
VATC1 2 3     V-ATPase C Subunit2
Vma51 2     V-Type Proton ATPase Subunit C 12
Vacuolar Proton Pump Subunit C 12 3     Vacuolar ATP Synthase Subunit C2
V-ATPase Subunit C 12 3     Vacuolar Proton Pump C Subunit2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 42kD1     Vacuolar Proton Pump, 42-KD Subunit2
ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C, Isoform 11     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP6V1C1:
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)

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:
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


(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_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP6V1C1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21283

  • ATP6V1C1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001686.1  
    ENSEMBL proteins: 
     ENSP00000428204   ENSP00000379203   ENSP00000430129   ENSP00000430282  
    Reactome Protein details: P21283
    Human Recombinant Protein Products: 
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    Uscn Proteins for ATP6V1C1

    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:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ISS--
    GO:0016469proton-transporting two-sector ATPase complex TAS8250920
    GO:0031410cytoplasmic vesicle IEA--


    ATP6V1C1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP6V1C1


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

    ATP6V1C1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004907 ATPase_V1-cplx_csu

    Graphical View of Domain Structure for InterPro Entry P21283

    ProtoNet protein and cluster: P21283

    1 Blocks protein family: IPB004907 V-ATPase subunit C

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

    miRNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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:0046961proton-transporting ATPase activity, rotational mechanism TAS8250920


    ATP6V1C1 for ontologies           About GeneDecksing


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


    (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 - 5/9 super-pathways (see all 9About 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
    4Phagosome
    Phagosome1.00
    5IRS-related events
    Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/9        Reactome Pathways for ATP6V1C1 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/7         Kegg Pathways  (Kegg details for ATP6V1C1) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Collecting duct acid secretion
    Vibrio cholerae infection


    ATP6V1C1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1C1

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

    5/140 Interacting proteins for ATP6V1C1 (P212831, 3 ENSP000003792034) via UniProtKB, MINT, STRING, and/or I2D (see all 140)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0015992proton transport TAS8250920


    ATP6V1C1 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 ATP6V1C1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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]

    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

    Search CenterWatch for drugs/clinical trials and news about ATP6V1C1 / VATC1 

    (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 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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    hsa-miR-4272 hsa-miR-548k hsa-miR-765 hsa-miR-3653 hsa-miR-219-5p hsa-miR-507 hsa-miR-548m hsa-miR-155
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1C1 3' UTR sequence
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    Additional cDNA sequence: 

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

    8 DOTS entries:

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

    24/277 AceView cDNA sequences (see all 277):

    BM726632 AU137773 AA242809 AL135257 BU509642 X69151 AA687883 D11931 
    AA242944 BP341958 CB159187 AA329805 BI825363 BQ706975 AI093229 BM706064 
    AA970447 AL545494 BP340075 CF456733 BG621083 BE046396 BX091643 BQ948461 

    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™, 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

    ATP6V1C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGTAAAGAA

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

    About this image
    See ATP6V1C1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1C1

    SOURCE GeneReport for Unigene cluster: Hs.86905

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

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    In Situ
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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 ATP6V1C1 gene from 10/33 species (see all 33)    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_418370.2  XP_418370.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1C16
    --
    94(a)
    1 ↔ 1
    4(13779540-13801116)
    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
    61.29(n)1
    65.34(a)1
      368261  NM_166164.41  NP_725565.31 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-116
    V-type proton ATPase subunit C
    56(a)
    1 → many
    IV(2307815-2314567)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA51 Vma5p 48.35(n)
    39.34(a)
      853782   NP_012843.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DET31 V-type proton ATPase subunit C 49.24(n)
    40.16(a)
      837840  NM_101154.3  NP_563916.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g05931001 hypothetical protein 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)
    About This Section
    Paralogs for ATP6V1C1 gene
    ATP6V1C22  
    1 SIMAP similar gene for ATP6V1C1 using alignment to 2 protein entries:     VATC1_HUMAN (see all proteins):
    ATP6V1C2

    ATP6V1C1 for paralogs           About GeneDecksing



    (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

    10/941 NCBI SNPs in ATP6V1C1 are shown (see all 941    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
    --104031639(+) AACCCA/GGGAGG 1 -- us2k10--------
    rs1445604361,2
    --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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATP6V1C1
         1 CNV: 7659

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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.)
    About This Section

    ATP6V1C1 for disorders           About GeneDecksing

    OMIM gene information: 603097    OMIM disorders: --

    13 diseases for ATP6V1C1:    About MalaCards
    osteopetrosis    renal tubular acidosis    oral squamous cell carcinoma    squamous cell carcinoma
    rheumatoid arthritis    acute leukemia    cholera    hematopoiesis
    hepatocellular carcinoma    arthritis    carcinoma    leukemia
    malaria

    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)
    About This Section

    PubMed articles for ATP6V1C1 gene, integrated from 9 sources (see all 37):
    (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. (1993)
    2. 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)
    3. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332)1, 3 Smith A.N....Karet F.E. (2003)
    4. Molecular cloning of cDNA encoding the C subunit of H(+)-ATPase from bovine chromaffin granules. (PubMed id 2147024)1, 2 Nelson H.... Nelson N. (1990)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Immunohistochemical localization of C1 subunit of V-AT Pase (ATPase C1) in oral squamous cell cancer and normal oral mucosa. (PubMed id 21526910)1 Garcia-Garcia A....Aguirre-Urizar J.M. (2012)
    7. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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

    (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 ATP6V1C1 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 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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