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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
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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

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