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    ATP6V0C ATPase H+ transporting V0 subunit c [ Homo sapiens (human) ]

    Gene ID: 527, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ATP6V0Cprovided by HGNC
    Official Full Name
    ATPase H+ transporting V0 subunit cprovided by HGNC
    Primary source
    HGNC:HGNC:855
    See related
    Ensembl:ENSG00000185883 MIM:108745; AllianceGenome:HGNC:855
    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
    ATPL; VATL; VPPC; Vma3; ATP6C; ATP6L; EPEO3
    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 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]
    Expression
    Ubiquitous expression in kidney (RPKM 126.5), brain (RPKM 117.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2513726..2520218)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2535856..2542340)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2563727..2570219)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7055 Neighboring gene netrin 3 Neighboring gene TBC1 domain family member 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2532873-2533374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2533375-2533874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2546817-2547422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2550095-2550912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2557190-2557690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2557691-2558191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2561075-2561678 Neighboring gene Sharpr-MPRA regulatory region 4251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7058 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7059 Neighboring gene amidohydrolase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10272 Neighboring gene microRNA 3178 Neighboring gene cementum protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Mattison KA, et al. Brain, 2023 Apr 19. PMID 36074901, Free PMC Article
    2. ATP6L promotes metastasis of colorectal cancer by inducing epithelial-mesenchymal transition. Wang J, et al. Cancer Sci, 2020 Feb. PMID 31840304, Free PMC Article
    3. Retinoblastoma-binding protein 2 induces epithelial-mesenchymal transition in esophageal squamous cancer cells. Qiao N, et al. Biotechnol Lett, 2015 Dec. PMID 26264242
    4. ATP6V0C knockdown in neuroblastoma cells alters autophagy-lysosome pathway function and metabolism of proteins that accumulate in neurodegenerative disease. Mangieri LR, et al. PLoS One, 2014. PMID 24695574, Free PMC Article
    5. Systematic microRNA analysis identifies ATP6V0C as an essential host factor for human cytomegalovirus replication. Pavelin J, et al. PLoS Pathog, 2013. PMID 24385903, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired TFEB-mediated autophagy-lysosome fusion promotes tubular cell cycle G2/M arrest and renal fibrosis by suppressing ATP6V0C expression and interacting with SNAREs.
      Title: Impaired TFEB-mediated autophagy-lysosome fusion promotes tubular cell cycle G2/M arrest and renal fibrosis by suppressing ATP6V0C expression and interacting with SNAREs.
    2. ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.
      Title: ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.
    3. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
      Title: ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
    4. The viral protein U (Vpu)-interacting host protein ATP6V0C down-regulates cell-surface expression of tetherin and thereby contributes to HIV-1 release.
      Title: The viral protein U (Vpu)-interacting host protein ATP6V0C down-regulates cell-surface expression of tetherin and thereby contributes to HIV-1 release.
    5. ATP6V0C enhances aerobic glycolysis and motility in Esophageal cancer cells.
      Title: Vacuolar H(+)-ATPase Subunit V0C Regulates Aerobic Glycolysis of Esophageal Cancer Cells via PKM2 Signaling.
    6. Study demonstrated that ATP6L is markedly overexpressed in the poorly differentiated colorectal cancer (CRC) tissues evidently located in the invasive front and metastatic foci. More importantly, in vitro and in vivo data demonstrated that ATP6L can induce the EMT program and promote tumor progression in CRC cells.
      Title: ATP6L promotes metastasis of colorectal cancer by inducing epithelial-mesenchymal transition.
    7. Results found that the expression of ATP6V0C was higher in prostate cancer (PC) cell lines with high metastatic potential than that with low metastatic potential, indicating that ATP6V0C enhanced metastatic capacity in prostate cancer cells. Its silencing effectively suppressed the migration and invasion of PC cells through the inhibition of the function of V-ATPase, not through a LASS2/TMSG1-dependent manner.
      Title: Silencing of vacuolar ATPase c subunit ATP6V0C inhibits the invasion of prostate cancer cells through a LASS2/TMSG1-independent manner.
    8. RBP2 could induce epithelial-mesenchymal transition in esophageal cancer cells and exert a greater effect on the expression of E-cadherin in lung squamous cells than in esophageal squamous cells.
      Title: Retinoblastoma-binding protein 2 induces epithelial-mesenchymal transition in esophageal squamous cancer cells.
    9. Data show that 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9) inhibit cell growth by regulating expression of KLF4/LASS2/V-ATPase proteins in breast cancer.
      Title: AGPAT9 suppresses cell growth, invasion and metastasis by counteracting acidic tumor microenvironment through KLF4/LASS2/V-ATPase signaling pathway in breast cancer.
    10. The consequences of pharmacological inhibition of v-ATPase (by concanamycin) on proliferation, migration, VEGF-receptor 2 (VEGFR2) trafficking and signaling, as well as Notch-mediated transcription in endothelial cells, were examined.
      Title: Regulation of endothelial signaling and migration by v-ATPase.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Epilepsy, early-onset, 3, with or without developmental delay
    MedGen: CN372699 OMIM: 620465 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c (ATP6V0C) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables proton-transporting ATP synthase activity, rotational mechanism TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi lumen acidification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in endosomal lumen acidification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular pH reduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in lysosomal lumen acidification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven ATP synthesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proton transmembrane transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in vacuolar acidification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in focal adhesion HDA PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in lysosomal membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of proton-transporting V-type ATPase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of transmembrane transporter complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of vacuolar proton-transporting V-type ATPase, V0 domain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    V-type proton ATPase 16 kDa proteolipid subunit c
    Names
    ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c
    H(+)-transporting two-sector ATPase, 16 kDa subunit
    V-ATPase 16 kDa proteolipid subunit
    V-ATPase 16 kDa proteolipid subunit c
    V-type proton ATPase 16 kDa proteolipid subunit
    vacuolar ATP synthase 16 kDa proteolipid subunit
    vacuolar H+ ATPase proton channel subunit
    vacuolar proton pump 16 kDa proteolipid subunit
    vacuolar proton pump 16 kDa proteolipid subunit c
    NP_001185498.1
    NP_001685.1

    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_001198569.2 → NP_001185498.1  V-type proton ATPase 16 kDa proteolipid subunit c

      See identical proteins and their annotated locations for NP_001185498.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC093525, AW161158, BC009290
      Consensus CDS
      CCDS10470.1
      UniProtKB/Swiss-Prot
      P27449, Q6FH26
      Conserved Domains (2) summary
      TIGR01100
      Location:13 → 118
      V_ATP_synt_C; vacuolar ATP synthase 16 kDa proteolipid subunit
      cd18176
      Location:86 → 153
      ATP-synt_Vo_c_ATP6C_rpt2; V-type proton ATPase 16 kDa proteolipid subunit (ATP6C/ATP6V0C/ATP6L/ATPL) and similar proteins

    2. NM_001694.4 → NP_001685.1  V-type proton ATPase 16 kDa proteolipid subunit c

      See identical proteins and their annotated locations for NP_001685.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC093525, BC009290
      Consensus CDS
      CCDS10470.1
      UniProtKB/Swiss-Prot
      P27449, Q6FH26
      Related
      ENSP00000329757.4, ENST00000330398.9
      Conserved Domains (2) summary
      TIGR01100
      Location:13 → 118
      V_ATP_synt_C; vacuolar ATP synthase 16 kDa proteolipid subunit
      cd18176
      Location:86 → 153
      ATP-synt_Vo_c_ATP6C_rpt2; V-type proton ATPase 16 kDa proteolipid subunit (ATP6C/ATP6V0C/ATP6L/ATPL) and similar proteins

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2513726..2520218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2535856..2542340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P27449.1 GenPept UniProtKB/Swiss-Prot:P27449

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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