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

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: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (103021083..103073051)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (104149047..104200988)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (104033311..104085279)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The ATPase subunit of ATP6V1C1 inhibits autophagy and enhances radiotherapy resistance in esophageal squamous cell carcinoma.
Title: The ATPase subunit of ATP6V1C1 inhibits autophagy and enhances radiotherapy resistance in esophageal squamous cell carcinoma.
Multi-cancer V-ATPase molecular signatures: A distinctive balance of subunit C isoforms in esophageal carcinoma.
Title: Multi-cancer V-ATPase molecular signatures: A distinctive balance of subunit C isoforms in esophageal carcinoma.
MIR29a plays an important role during the trans-differentiation of Activated hepatic stellate cells in the resolution of liver fibrosis, in part, through regulation of ATP6V1C1.
Title: MicroRNA29a Reverts the Activated Hepatic Stellate Cells in the Regression of Hepatic Fibrosis through Regulation of ATPase H⁺ Transporting V1 Subunit C1.
knockdown of C1 reduces breast cancer growth, metastasis, and osteolytic lesion formation.
Title: Osteoclast proton pump regulator Atp6v1c1 enhances breast cancer growth by activating the mTORC1 pathway and bone metastasis by increasing V-ATPase activity.
We assessed ATPaseC1 expression in a sample of oral squamous cell carcinoma using tissue microarrays to analyze the relation between ATPaseC1 expression and clinical, histopathological and prognostic parameters.
Title: The use of tissue microarrays for semiquantitative evaluation of ATPaseC1 expression is ineffective.
results of our study suggest that high expression of Atp6v1c1 affects the actin structure of cancer cells such that it facilitates breast cancer metastasis
Title: Atp6v1c1 may regulate filament actin arrangement in breast cancer cells.
Immunohistochemical localization of C1 subunit of V-ATPase (ATPase C1) in oral squamous cell cancer and normal oral mucosa.
Title: Immunohistochemical localization of C1 subunit of V-ATPase (ATPase C1) in oral squamous cell cancer and normal oral mucosa.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
proximal promoter region contains cis-acting elements required for expression in cancer cells
Title: Structural and functional characterization of two human V-ATPase subunit gene promoters.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1610 (e-PCR)
- UniSTS:67184

RH137726 (e-PCR)
- UniSTS:219813

STS-N33243 (e-PCR)
- UniSTS:66496

ATP6V1C1__4398 (e-PCR)
- UniSTS:463555

RH78580 (e-PCR)
- UniSTS:29655

SHGC-2582 (e-PCR)
- UniSTS:15340

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 more info	PubMed
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	HDA more info	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 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

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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

EC 7.1.2.2

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)

NM_001695.5 → NP_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:56 → 76

V-ATPase_C; 3-helical coiled coil [structural motif]

pfam03223
Location:5 → 370

V-ATPase_C; V-ATPase subunit C

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

103021083..103073051

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

104149047..104200988

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.