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    ATP6V1C1 ATPase H+ transporting V1 subunit C1 [ Homo sapiens (human) ]

    Gene ID: 528, updated on 5-Mar-2024

    Summary

    Official Symbol
    ATP6V1C1provided by HGNC
    Official Full Name
    ATPase H+ transporting V1 subunit C1provided by HGNC
    Primary source
    HGNC:HGNC:856
    See related
    Ensembl:ENSG00000155097 MIM:603097; AllianceGenome:HGNC:856
    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
    VATC; Vma5; ATP6C; ATP6D
    Summary
    This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 32.3), thyroid (RPKM 16.6) and 24 other tissues See more
    Orthologs
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    Genomic context

    See ATP6V1C1 in Genome Data Viewer
    Location:
    8q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (103021083..103073051)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (104149047..104200988)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (104033311..104085279)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene macrophage interferon regulatory lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27784 Neighboring gene ribosomal protein L5 pseudogene 24 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27786 Neighboring gene nucleophosmin 1 pseudogene 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27787 Neighboring gene MT-ND2 pseudogene 10 Neighboring gene MT-ND1 pseudogene 5

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20057

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in proton transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in synaptic vesicle lumen acidification IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extrinsic component of synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of proton-transporting two-sector ATPase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of transmembrane transporter complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of vacuolar proton-transporting V-type ATPase, V1 domain IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of vacuolar proton-transporting V-type ATPase, V1 domain ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    V-type proton ATPase subunit C 1
    Names
    ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1
    H(+)-transporting two-sector ATPase, subunit C
    H+ -ATPase C subunit
    H+-transporting ATPase chain C, vacuolar
    V-ATPase C subunit
    V-ATPase subunit C 1
    subunit C of vacuolar proton-ATPase V1 domain
    testicular tissue protein Li 223
    vacuolar ATP synthase subunit C
    vacuolar proton pump C subunit
    vacuolar proton pump subunit C 1
    vacuolar proton pump, 42-kD subunit
    vacuolar proton-ATPase, subunit C, VI domain
    NP_001686.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001695.5NP_001686.1  V-type proton ATPase subunit C 1

      See identical proteins and their annotated locations for NP_001686.1

      Status: REVIEWED

      Source sequence(s)
      AP003550, X69151
      Consensus CDS
      CCDS6296.1
      UniProtKB/Swiss-Prot
      P21283
      UniProtKB/TrEMBL
      A0A024R9I0, B7Z593
      Related
      ENSP00000430282.1, ENST00000518738.2
      Conserved Domains (2) summary
      cd14785
      Location:5676
      V-ATPase_C; 3-helical coiled coil [structural motif]
      pfam03223
      Location:5370
      V-ATPase_C; V-ATPase subunit C

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      103021083..103073051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      104149047..104200988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007254.1: Suppressed sequence

      Description
      NM_001007254.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.