Homo sapiens Gene: ATP6V1C2
Summary
InnateDB Gene IDBG-29072.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATP6V1C2
Gene Name ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000143882
Encoded Proteins
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:10721649-10785110
Strand Forward strand
Band p25.1
Transcripts
ENST00000381661 ENSP00000371077
ENST00000272238 ENSP00000272238
ENST00000480289
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism
GO:0015078 hydrogen ion transmembrane transporter activity
GO:0046983 protein dimerization activity
Biological Process
GO:0006879 cellular iron ion homeostasis
GO:0008286 insulin receptor signaling pathway
GO:0015991 ATP hydrolysis coupled proton transport
GO:0030177 positive regulation of Wnt signaling pathway
GO:0033572 transferrin transport
GO:0051701 interaction with host
GO:0055085 transmembrane transport
GO:0090382 phagosome maturation
Cellular Component
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0033180 proton-transporting V-type ATPase, V1 domain
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Transferrin endocytosis and recycling pathway
Iron uptake and transport pathway
Insulin receptor recycling pathway
Signaling by Insulin receptor pathway
Phagosomal maturation (early endosomal stage) pathway
Transmembrane transport of small molecules pathway
Signal Transduction pathway
Latent infection of Homo sapiens with Mycobacterium tuberculosis pathway
Disease pathway
KEGG
Vibrio cholerae infection pathway
Epithelial cell signaling in Helicobacter pylori infection pathway
Oxidative phosphorylation pathway
Collecting duct acid secretion pathway
Phagosome pathway
INOH
PID NCI
Cross-References
SwissProt Q8NEY4
TrEMBL
UniProt Splice Variant
Entrez Gene 245973
UniGene
RefSeq NM_001039362 NM_144583
HUGO HGNC:18264
OMIM
CCDS CCDS1674 CCDS42653
HPRD
IMGT
EMBL AC092687 AY039759 BC012142
GenPept AAH12142 AAK83464 AAY24069
RNA Seq Atlas 245973