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

    Gene ID: 245973, updated on 5-Aug-2018

    Summary

    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 MIM:618070; 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 47.0), skin (RPKM 40.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See ATP6V1C2 in Genome Data Viewer
    Location:
    2p25.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (10720973..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 RNA, 7SL, cytoplasmic 832, pseudogene Neighboring gene RNA, U7 small nuclear 138 pseudogene Neighboring gene uncharacterized LOC105373428 Neighboring gene protein disulfide isomerase family A member 6 Neighboring gene RNA, U7 small nuclear 176 pseudogene Neighboring gene long intergenic non-protein coding RNA 1954

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    Phenotypes

    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

    Pathways from BioSystems

    • 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...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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 phagocytes, organism-specific biosystem (from REACTOME)
      ROS, RNS production in phagocytes, organism-specific biosystemThe first line of defense against infectious agents involves an active recruitment of phagocytes to the site of infection. Recruited cells include polymorhonuclear (PMN) leukocytes (i.e., neutrophils...
    • 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, ...
    • mTOR signaling pathway, organism-specific biosystem (from KEGG)
      mTOR signaling pathway, organism-specific biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...
    • mTOR signaling pathway, conserved biosystem (from KEGG)
      mTOR signaling pathway, conserved biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proton-exporting ATPase activity, phosphorylative mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proton-transporting ATPase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    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
     
    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 HDA PubMed 
    lysosomal membrane HDA PubMed 
    vacuolar proton-transporting V-type ATPase, V1 domain IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    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
    XP_011508641.1
    XP_011508642.1
    XP_011508643.1
    XP_016859234.1

    NCBI Reference Sequences (RefSeq)

    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
      ENSP00000272238.4, OTTHUMP00000200400, ENST00000272238.8, OTTHUMT00000323555
      Conserved Domains (2) summary
      cd14785
      Location:5575
      V-ATPase_C; 3-helical coiled coil [structural motif]
      pfam03223
      Location:5417
      V-ATPase_C; V-ATPase subunit C
    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
      ENSP00000371077.3, OTTHUMP00000115522, ENST00000381661.3, OTTHUMT00000206906
      Conserved Domains (2) summary
      cd14785
      Location:5575
      V-ATPase_C; 3-helical coiled coil [structural motif]
      pfam03223
      Location:5371
      V-ATPase_C; V-ATPase subunit C

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      10720973..10785110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003745.2XP_016859234.1  V-type proton ATPase subunit C 2 isoform X2

      UniProtKB/Swiss-Prot
      Q8NEY4
      Conserved Domains (2) summary
      cd14785
      Location:5575
      V-ATPase_C; 3-helical coiled coil [structural motif]
      pfam03223
      Location:5417
      V-ATPase_C; V-ATPase subunit C
    2. XM_011510339.3XP_011508641.1  V-type proton ATPase subunit C 2 isoform X1

      See identical proteins and their annotated locations for XP_011508641.1

      UniProtKB/TrEMBL
      A0A0U1RR16
      Related
      ENSP00000489280.1, OTTHUMP00000281360, ENST00000635370.1
      Conserved Domains (2) summary
      cd14785
      Location:5575
      V-ATPase_C; 3-helical coiled coil [structural motif]
      pfam03223
      Location:5427
      V-ATPase_C; V-ATPase subunit C
    3. XM_011510340.3XP_011508642.1  V-type proton ATPase subunit C 2 isoform X3

      See identical proteins and their annotated locations for XP_011508642.1

      Conserved Domains (2) summary
      cd14785
      Location:5575
      V-ATPase_C; 3-helical coiled coil [structural motif]
      pfam03223
      Location:5381
      V-ATPase_C; V-ATPase subunit C
    4. XM_011510341.2XP_011508643.1  V-type proton ATPase subunit C 2 isoform X4

      Conserved Domains (2) summary
      cd14785
      Location:5575
      V-ATPase_C; 3-helical coiled coil [structural motif]
      pfam03223
      Location:5222
      V-ATPase_C; V-ATPase subunit C

    RNA

    1. XR_922658.3 RNA Sequence

    2. XR_922662.3 RNA Sequence

    3. XR_922657.3 RNA Sequence

    4. XR_922661.1 RNA Sequence

    5. XR_922663.3 RNA Sequence

    6. XR_922664.3 RNA Sequence

    7. XR_002959251.1 RNA Sequence

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