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Aliases for ATP6V0C Gene

Aliases for ATP6V0C Gene

  • ATPase, H+ Transporting, Lysosomal 16kDa, V0 Subunit C 2 3
  • ATP6C 3 4 6
  • ATP6L 3 4 6
  • Vacuolar Proton Pump 16 KDa Proteolipid Subunit 3 4
  • V-ATPase 16 KDa Proteolipid Subunit 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, Lysosomal 16kDa, V0 Subunit C) is a Protein Coding gene. Diseases associated with ATP6V0C include progressive myoclonic epilepsy with dystonia. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include ubiquitin protein ligase binding and proton-transporting ATP synthase 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, 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

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

Genomics for ATP6V0C Gene

Regulatory Elements for ATP6V0C Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP6V0C Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ATP6V0C Gene at MOPED

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 for ATP6V0C Gene

Gene Families for ATP6V0C Gene

HGNC:
  • VATP :ATPases / V-type
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 :
  • P27449
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 11543633
GO:0015078 hydrogen ion transmembrane transporter activity --
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V0C

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for ATP6V0C Gene COMPARTMENTS Subcellular localization image for ATP6V0C gene
Compartment Confidence
vacuole 5
endosome 4
plasma membrane 3
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP6V0C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005925 focal adhesion IDA 21423176
GO:0010008 endosome membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0030670 phagocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with ATP6V0C: view

Pathways for ATP6V0C Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ATP6V0C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 proton transport TAS 1709739
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with ATP6V0C: view

Compounds for ATP6V0C Gene

(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]

(4) HMDB Compounds for ATP6V0C Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V0C

Primer Products

Flow Cytometry 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 for ATP6V0C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V0C Gene

SOURCE GeneReport for Unigene cluster for ATP6V0C Gene Hs.389107

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 99.35 (n)
  • 99.35 (a)
ATP6V0C 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V0C 35
  • 90.32 (n)
  • 96.77 (a)
ATP6V0C 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0C 35
  • 90.11 (n)
  • 96.77 (a)
ATP6V0C 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0c 35
  • 86.88 (n)
  • 90.97 (a)
Atp6v0c 16
Atp6v0c 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atp6v0c 35
  • 86.67 (n)
  • 90.97 (a)
chicken
(Gallus gallus)
Aves ATP6V0C 35
  • 78.65 (n)
  • 93.46 (a)
ATP6V0C 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V0C 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC64475 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0c 35
  • 77.06 (n)
  • 91.56 (a)
MGC75730 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13983 35
zebrafish
(Danio rerio)
Actinopterygii atp6v0c 35
atp6v0ca 36
  • 90 (a)
OneToMany
atp6v0cb 35
  • 80.7 (n)
  • 92.76 (a)
atp6v0cb 36
  • 93 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Vha16-1 35
  • 74.78 (n)
  • 82.24 (a)
Vha16-1 36
  • 80 (a)
OneToMany
Vha16-2 36
  • 66 (a)
OneToMany
Vha16-3 36
  • 75 (a)
OneToMany
Vha16-4 36
  • 65 (a)
OneToMany
Vha16-5 36
  • 50 (a)
OneToMany
Vha16 37
  • 81 (a)
CG9013 37
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea vha-1 36
  • 55 (a)
OneToMany
vha-2 35
  • 64.27 (n)
  • 67.97 (a)
vha-2 36
  • 63 (a)
OneToMany
vha-3 36
  • 63 (a)
OneToMany
vha-2 37
  • 67 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL074W 35
  • 61.84 (n)
  • 71.05 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA11 38
VMA3 35
  • 59.23 (n)
  • 71.62 (a)
VMA3 36
  • 68 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22441g 35
  • 59.21 (n)
  • 71.71 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1223 35
soybean
(Glycine max)
eudicotyledons Gma.12504 35
barley
(Hordeum vulgare)
Liliopsida Hv.861 35
corn
(Zea mays)
Liliopsida Zm.6210 35
rice
(Oryza sativa)
Liliopsida Os.5911 35
Os01g0962300 35
  • 68.6 (n)
  • 62.58 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28372 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01332 35
  • 66.67 (n)
  • 73.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma3 35
  • 62.39 (n)
  • 76.35 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10414 35
Species with no ortholog for ATP6V0C:
  • 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

Selected 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 MAF
rs5815126 -- 2,516,291(+) TTTTT(-/T)AGAGA intron-variant
rs10679792 -- 2,517,754(+) TGTGT(-/GTGT/TC)CTGTC intron-variant
rs11367350 -- 2,516,098(+) TTTTT(-/T)CTCCC intron-variant
rs11546340 -- 2,514,139(+) GCTTC(G/T)TTTTT reference, synonymous-codon
rs11546341 -- 2,514,094(+) TCCCC(A/G)CCCGC utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
dgv2545n71 CNV Loss 21882294
nsv905139 CNV Loss 21882294
nsv833121 CNV Loss 17160897
dgv2569n71 CNV Loss 21882294
dgv2570n71 CNV Loss 21882294
nsv905149 CNV Loss 21882294
nsv905152 CNV Loss 21882294
nsv905153 CNV Loss 21882294
dgv793e1 CNV Complex 17122850
nsv833122 CNV Loss 17160897
dgv2571n71 CNV Loss 21882294

Relevant External Links for ATP6V0C Gene

HapMap Linkage Disequilibrium report
ATP6V0C
Human Gene Mutation Database (HGMD)
ATP6V0C

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

Disorders for ATP6V0C Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for ATP6V0C Gene including...

Search for ATP6V0C Gene in MalaCards »

Relevant External Links for ATP6V0C

Genetic Association Database (GAD)
ATP6V0C
Human Genome Epidemiology (HuGE) Navigator
ATP6V0C
genes like me logo Genes that share disorders with ATP6V0C: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. 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
  4. Mapping of the intermolecular association of human T cell leukaemia/lymphotropic virus type I p12I and the vacuolar H+-ATPase 16 kDa subunit protein. (PMID: 7636472) Koralnik I.J. … Franchini G. (J. Gen. Virol. 1995) 3 4
  5. Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PMID: 8250920) van Hille B. … Bilbe G. (Biochem. Biophys. Res. Commun. 1993) 2 3

Products for ATP6V0C Gene

Sources for ATP6V0C Gene

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