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ATP6V1C2 ATPase H+ transporting V1 subunit C2 [ Homo sapiens (human) ]

Gene ID: 245973, updated on 26-May-2016
Official Symbol
ATP6V1C2provided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit C2provided by HGNC
Primary source
HGNC:HGNC:18264
See related
Ensembl:ENSG00000143882 HPRD:16523; Vega:OTTHUMG00000090459
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VMA5; ATP6C2
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]
Orthologs
Location:
chromosome: 2
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (10720974..10785110)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (10861775..10925236)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nucleolar protein 10 Neighboring gene uncharacterized LOC105373427 Neighboring gene uncharacterized LOC105373428 Neighboring gene protein disulfide isomerase family A member 6 Neighboring gene uncharacterized LOC101929733 Neighboring gene potassium voltage-gated channel modifier subfamily F member 1

NHGRI GWAS Catalog

Description
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
NHGRI GWA Catalog
  • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
    Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Collecting duct acid secretion, conserved biosystem (from KEGG)
    Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
  • Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Epithelial cell signaling in Helicobacter pylori infection, conserved biosystem (from KEGG)
    Epithelial cell signaling in Helicobacter pylori infection, conserved biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Insulin receptor recycling, organism-specific biosystem (from REACTOME)
    Insulin receptor recycling, organism-specific biosystemTriggered by acidification of the endosome, insulin dissociates from the receptor and is degraded. The receptor is dephosphorylated and re-integrated into the plasma membrane, ready to be activated a...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Iron uptake and transport, organism-specific biosystem (from REACTOME)
    Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
    Oxidative phosphorylation, organism-specific biosystem
    Oxidative phosphorylation
  • Oxidative phosphorylation, conserved biosystem (from KEGG)
    Oxidative phosphorylation, conserved biosystem
    Oxidative phosphorylation
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • ROS, RNS production in response to bacteria, organism-specific biosystem (from REACTOME)
    ROS, RNS production in response to bacteria, organism-specific biosystemWhen engulfed by macrophages, microorganisms are exposed to a number of host defense mechanisms within the resulting phagosome and through its subsequent fusion with lysosomes. These include the prod...
  • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
    Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Rheumatoid arthritis, conserved biosystem (from KEGG)
    Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
    Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • V-type ATPase, eukaryotes, organism-specific biosystem (from KEGG)
    V-type ATPase, eukaryotes, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
  • V-type ATPase, eukaryotes, conserved biosystem (from KEGG)
    V-type ATPase, eukaryotes, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
  • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
    Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
  • Vibrio cholerae infection, conserved biosystem (from KEGG)
    Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrogen-exporting ATPase activity, phosphorylative mechanism IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP hydrolysis coupled proton transport IEA
Inferred from Electronic Annotation
more info
 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
positive regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
proton-transporting V-type ATPase, V1 domain IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
V-type proton ATPase subunit C 2
Names
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
V-ATPase C2 subunit
vacuolar proton pump subunit C 2
NP_001034451.1
NP_653184.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050575.1 RefSeqGene

    Range
    5676..69137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039362.1NP_001034451.1  V-type proton ATPase subunit C 2 isoform a

    See identical proteins and their annotated locations for NP_001034451.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC092687, AY039759, BC012142, BX358022, DB230703
    Consensus CDS
    CCDS42653.1
    UniProtKB/Swiss-Prot
    Q8NEY4
    Related
    ENSP00000272238, OTTHUMP00000200400, ENST00000272238, OTTHUMT00000323555
    Conserved Domains (1) summary
    cd14785
    Location:4421
    V-ATPase_C; Subunit C of vacuolar H+-ATPase (V-ATPase)
  2. NM_144583.3NP_653184.2  V-type proton ATPase subunit C 2 isoform b

    See identical proteins and their annotated locations for NP_653184.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AY039759, BC012142, BX358022, DB230703
    Consensus CDS
    CCDS1674.1
    UniProtKB/Swiss-Prot
    Q8NEY4
    Related
    ENSP00000371077, OTTHUMP00000115522, ENST00000381661, OTTHUMT00000206906
    Conserved Domains (1) summary
    cd14785
    Location:4375
    V-ATPase_C; Subunit C of vacuolar H+-ATPase (V-ATPase)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    10720974..10785110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510339.1XP_011508641.1  

    See identical proteins and their annotated locations for XP_011508641.1

    UniProtKB/TrEMBL
    A0A0U1RR16
    Related
    ENSP00000489280, OTTHUMP00000281360, ENST00000635370, OTTHUMT00000488275
    Conserved Domains (1) summary
    cd14785
    Location:4431
    V-ATPase_C; Subunit C of vacuolar H+-ATPase (V-ATPase)
  2. XM_011510340.1XP_011508642.1  

    See identical proteins and their annotated locations for XP_011508642.1

    Conserved Domains (1) summary
    cd14785
    Location:4385
    V-ATPase_C; Subunit C of vacuolar H+-ATPase (V-ATPase)
  3. XM_011510341.1XP_011508643.1  

    Conserved Domains (1) summary
    cd14785
    Location:4222
    V-ATPase_C; Subunit C of vacuolar H+-ATPase (V-ATPase)

RNA

  1. XR_922658.1 RNA Sequence

  2. XR_922659.1 RNA Sequence

  3. XR_922662.1 RNA Sequence

  4. XR_922657.1 RNA Sequence

  5. XR_922661.1 RNA Sequence

  6. XR_922660.1 RNA Sequence

  7. XR_922663.1 RNA Sequence

  8. XR_922664.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    10791519..10854975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)