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Aliases for ATP6V0C Gene

Aliases for ATP6V0C Gene

  • ATPase H+ Transporting V0 Subunit C 2 3 5
  • ATPase, H+ Transporting, Lysosomal 16kDa, V0 Subunit C 2 3
  • Vacuolar Proton Pump 16 KDa Proteolipid Subunit 3 4
  • V-ATPase 16 KDa Proteolipid Subunit 3 4
  • ATP6C 3 4
  • ATP6L 3 4
  • ATPL 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 16kD 2
  • H(+)-Transporting Two-Sector ATPase, 16 KDa Subunit 3
  • Vacuolar ATP Synthase 16 KDa Proteolipid Subunit 3
  • V-Type Proton ATPase 16 KDa Proteolipid Subunit 3
  • Vacuolar H+ ATPase Proton Channel Subunit 3
  • VATL 3
  • VPPC 3
  • Vma3 3

External Ids for ATP6V0C Gene

Previous HGNC Symbols for ATP6V0C Gene

  • ATPL
  • ATP6C
  • ATP6L

Previous GeneCards Identifiers for ATP6V0C Gene

  • GC16P002565
  • GC16P002503
  • GC16P002563

Summaries for ATP6V0C Gene

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 V0 Subunit C) is a Protein Coding gene. Diseases associated with ATP6V0C include Dravet Syndrome. Among its related pathways are Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ubiquitin protein ligase binding and proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot for ATP6V0C Gene

  • 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.

Tocris 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 and endosomes.

Gene Wiki entry for ATP6V0C Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0C Gene

Genomics for ATP6V0C Gene

Regulatory Elements for ATP6V0C Gene

Enhancers for ATP6V0C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G002529 1.5 FANTOM5 ENCODE 8.9 +18.1 18121 3.8 HDGF HNRNPUL1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 TBC1D24 LOC652276 ATP6V0C CEMP1 PDPK1 AMDHD2 SRRM2 E4F1 RAB26 GC16P002898
GH16G002523 1.2 ENCODE dbSUPER 8.6 +10.5 10534 2.3 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF143 SP5 MXD4 PRSS27 ATP6V0C AMDHD2 CEMP1
GH16G002539 1.2 ENCODE dbSUPER 8.4 +26.8 26839 2.2 ELF3 HDGF MLX ARID4B DMAP1 RAD21 ZNF2 RARA TCF12 SLC30A9 TBC1D24 ATP6V0C PDPK1 ENSG00000261288
GH16G002534 1.3 ENCODE dbSUPER 7.7 +23.2 23190 3.8 HDGF PKNOX1 ARID4B SIN3A ZNF48 YY1 GTF3C2 GLIS2 ELK1 FOS JPT2 ZNF598 TRAF7 ENSG00000260954 ENSG00000255513 THOC6 SNORA64 LOC105371055 RNPS1 SNORD60
GH16G003004 1.7 FANTOM5 ENCODE dbSUPER 5.1 +494.4 494360 7.9 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC MMP25 LOC107984895 CREBBP ZNF597 ZNF263 THOC6 LOC105371055 SNORD60 TIGD7 ZNF598
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6V0C on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V0C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000279449 774 1801 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 SP3 ZHX2

Genomic Location for ATP6V0C Gene

Chromosome:
16
Start:
2,513,726 bp from pter
End:
2,520,223 bp from pter
Size:
6,498 bases
Orientation:
Plus strand

Genomic View for ATP6V0C Gene

Genes around ATP6V0C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V0C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V0C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0C Gene

Proteins for ATP6V0C Gene

  • Protein details for ATP6V0C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27449-VATL_HUMAN
    Recommended name:
    V-type proton ATPase 16 kDa proteolipid subunit
    Protein Accession:
    P27449
    Secondary Accessions:
    • Q6FH26

    Protein attributes for ATP6V0C Gene

    Size:
    155 amino acids
    Molecular mass:
    15736 Da
    Quaternary structure:
    • 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.

neXtProt entry for ATP6V0C Gene

Post-translational modifications for ATP6V0C Gene

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

Other Protein References for ATP6V0C Gene

No data available for DME Specific Peptides for ATP6V0C Gene

Domains & Families for ATP6V0C Gene

Gene Families for ATP6V0C Gene

HGNC:
IUPHAR :

Suggested Antigen Peptide Sequences for ATP6V0C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P27449

UniProtKB/Swiss-Prot:

VATL_HUMAN :
  • Belongs to the V-ATPase proteolipid subunit family.
Family:
  • Belongs to the V-ATPase proteolipid subunit family.
genes like me logo Genes that share domains with ATP6V0C: view

Function for ATP6V0C Gene

Molecular function for ATP6V0C Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for ATP6V0C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 1334459
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 18298843
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism TAS 1709739
GO:0046961 proton-transporting ATPase activity, rotational mechanism TAS 1709739
genes like me logo Genes that share ontologies with ATP6V0C: view
genes like me logo Genes that share phenotypes with ATP6V0C: view

Animal Models for ATP6V0C Gene

MGI Knock Outs for ATP6V0C:

Animal Model Products

CRISPR Products

miRNA for ATP6V0C Gene

miRTarBase miRNAs that target ATP6V0C

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP6V0C Gene

Localization for ATP6V0C Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0C Gene

Vacuole membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V0C gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 4
cytosol 1

Gene Ontology (GO) - Cellular Components for ATP6V0C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IBA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005773 vacuole IEA --
GO:0005774 vacuolar membrane IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ATP6V0C: view

Pathways & Interactions for ATP6V0C Gene

genes like me logo Genes that share pathways with ATP6V0C: view

Gene Ontology (GO) - Biological Process for ATP6V0C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007042 lysosomal lumen acidification IBA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
genes like me logo Genes that share ontologies with ATP6V0C: view

No data available for SIGNOR curated interactions for ATP6V0C Gene

Drugs & Compounds for ATP6V0C Gene

(5) Drugs for ATP6V0C Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 37
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V0C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(3) Tocris Compounds for ATP6V0C Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
genes like me logo Genes that share compounds with ATP6V0C: view

Transcripts for ATP6V0C Gene

Unigene Clusters for ATP6V0C Gene

ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0C Gene

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

Relevant External Links for ATP6V0C Gene

GeneLoc Exon Structure for
ATP6V0C
ECgene alternative splicing isoforms for
ATP6V0C

Expression for ATP6V0C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP6V0C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP6V0C Gene

This gene is overexpressed in Retina (11.1) and Brain (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP6V0C Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP6V0C Gene:

ATP6V0C

SOURCE GeneReport for Unigene cluster for ATP6V0C Gene:

Hs.389107

Evidence on tissue expression from TISSUES for ATP6V0C Gene

  • Nervous system(4.9)
  • Skin(4.7)
  • Muscle(4.5)
  • Pancreas(3.6)
  • Eye(3.5)
  • Lung(3.4)
  • Stomach(3)
  • Kidney(2.7)
  • Intestine(2.4)
  • Liver(2.3)
  • Heart(2.2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with ATP6V0C: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V0C Gene

Orthologs for ATP6V0C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0C 34 35
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia ATP6V0C 34 35
  • 90.32 (n)
dog
(Canis familiaris)
Mammalia ATP6V0C 34 35
  • 90.11 (n)
mouse
(Mus musculus)
Mammalia Atp6v0c 34 16 35
  • 86.88 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v0c 34
  • 86.67 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 84 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V0C 34 35
  • 78.65 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6V0C 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0c 34
  • 77.06 (n)
MGC75730 34
African clawed frog
(Xenopus laevis)
Amphibia MGC64475 34
zebrafish
(Danio rerio)
Actinopterygii atp6v0ca 35
  • 90 (a)
OneToMany
atp6v0cb 34 35
  • 80.7 (n)
atp6v0c 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13983 34
fruit fly
(Drosophila melanogaster)
Insecta Vha16 36
  • 81 (a)
Vha16-3 35
  • 75 (a)
OneToMany
Vha16-1 34 35
  • 74.78 (n)
Vha16-2 35
  • 66 (a)
OneToMany
CG9013 36
  • 65 (a)
Vha16-4 35
  • 65 (a)
OneToMany
Vha16-5 35
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-2 36 34 35
  • 64.27 (n)
vha-3 35
  • 63 (a)
OneToMany
vha-1 35
  • 55 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL074W 34
  • 61.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA3 34 35
  • 59.23 (n)
VMA11 37
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22441g 34
  • 59.21 (n)
soybean
(Glycine max)
eudicotyledons Gma.12504 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1223 34
rice
(Oryza sativa)
Liliopsida Os01g0962300 34
  • 68.6 (n)
Os.5911 34
barley
(Hordeum vulgare)
Liliopsida Hv.861 34
wheat
(Triticum aestivum)
Liliopsida Ta.28372 34
corn
(Zea mays)
Liliopsida Zm.6210 34
bread mold
(Neurospora crassa)
Ascomycetes NCU01332 34
  • 66.67 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma3 34
  • 62.39 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10414 34
Species where no ortholog for ATP6V0C was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ATP6V0C Gene

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

Paralogs for ATP6V0C Gene

(1) SIMAP similar genes for ATP6V0C Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for ATP6V0C Gene

genes like me logo Genes that share paralogs with ATP6V0C: view

No data available for Paralogs for ATP6V0C Gene

Variants for ATP6V0C Gene

Sequence variations from dbSNP and Humsavar for ATP6V0C Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000014505 -- 2,514,828(+) GGTTC(C/G)GAGAG intron-variant
rs1000079139 -- 2,515,896(+) TTTCT(A/G)CACCC intron-variant
rs1000131528 -- 2,516,208(+) CCCAG(C/G)CTCAA intron-variant
rs1000247388 -- 2,512,963(+) GCAGA(-/G)GGGGG upstream-variant-2KB
rs1000338119 -- 2,517,303(+) GGGCA(C/G)CTCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0C Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV duplication 17116639
esv2760067 CNV gain+loss 17122850
nsv1052260 CNV gain 25217958
nsv1121904 CNV deletion 24896259
nsv833121 CNV loss 17160897
nsv833122 CNV loss 17160897

Variation tolerance for ATP6V0C Gene

Residual Variation Intolerance Score: 35.9% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V0C Gene

Human Gene Mutation Database (HGMD)
ATP6V0C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V0C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0C Gene

Disorders for ATP6V0C Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATP6V0C Gene - From: GeneCards

Disorder Aliases PubMed IDs
dravet syndrome
  • dravet syndrome, modifier of
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP6V0C

Genetic Association Database (GAD)
ATP6V0C
Human Genome Epidemiology (HuGE) Navigator
ATP6V0C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0C
genes like me logo Genes that share disorders with ATP6V0C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V0C Gene

Publications for ATP6V0C Gene

  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. (PMID: 1709739) Gillespie G.A.J. … Reeders S.T. (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 64
  2. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 46 64
  3. Small interfering RNA targeting the subunit ATP6L of proton pump V-ATPase overcomes chemoresistance of breast cancer cells. (PMID: 19299075) You H. … Qin W. (Cancer Lett. 2009) 3 22 64
  4. A novel brain-enriched E3 ubiquitin ligase RNF182 is up regulated in the brains of Alzheimer's patients and targets ATP6V0C for degradation. (PMID: 18298843) Liu Q.Y. … Liu R. (Mol. Neurodegener. 2008) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for ATP6V0C Gene

Sources for ATP6V0C Gene

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