Atp6v1c1 ATPase, H+ transporting, lysosomal V1 subunit C1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v1c1provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V1 subunit C1provided by MGI
Primary source: MGI:MGI:1913585
See related: Ensembl:ENSMUSG00000022295 AllianceGenome:MGI:1913585
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1700025B18Rik
Summary: Enables proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Located in plasma membrane. Part of proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including alimentary system; central nervous system; integumental system; respiratory system; and sensory organ. Orthologous to human ATP6V1C1 (ATPase H+ transporting V1 subunit C1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in cortex adult (RPKM 58.2), frontal lobe adult (RPKM 53.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 B3.1; 15 15.18 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (38662096..38692688)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (38661904..38692444)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

results showed that adneno-associated virus-mediated Atp6v1c1 knockdown in periapical tissues slowed endodontic disease progression, prevented bone erosion, and alleviated inflammation in the periapical tissues and periodontal ligament potentially through regulation of toll-like receptor signaling
Title: C1 Silencing Attenuates Inflammation and Alveolar Bone Resorption in Endodontic Disease.
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.
Atp6v1c1 RNAi knockdown gene therapy mediated by AAV-shRNA-Atp6v1c1 is a promising novel therapeutic approach for the treatment of bone erosion and inflammatory related diseases, such as periodontitis and rheumatoid arthritis.
Title: Targeting Atp6v1c1 Prevents Inflammation and Bone Erosion Caused by Periodontitis and Reveals Its Critical Function in Osteoimmunology.
Silencing of atp6v1c1 prevents breast cancer growth and bone metastasis.
Title: Silencing of atp6v1c1 prevents breast cancer growth and bone metastasis.
Study demonstrates that Atp6v1c1 is an essential component of the osteoclast proton pump at the osteoclast ruffled border and that it may regulate F-actin ring formation in osteoclast activation.
Title: Atp6v1c1 is an essential component of the osteoclast proton pump and in F-actin ring formation in osteoclasts.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH137726 (e-PCR)
- UniSTS:219813

U13839 (e-PCR)
- UniSTS:160448

Atp6v1c1 (e-PCR), detects polymorphism
- UniSTS:527052

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables proton-transporting ATPase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
enables proton-transporting ATPase activity, rotational mechanism	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in synaptic vesicle lumen acidification	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ATPase complex	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting V-type ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting V-type ATPase, V1 domain	IDA Inferred from Direct Assay 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, V1 subunit C; V-ATPase subunit C 1; vacuolar proton pump subunit C 1

NP_079770.2

EC 7.1.2.2

XP_036015431.1

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.