Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP6V1C1 Gene

Aliases for ATP6V1C1 Gene

  • ATPase H+ Transporting V1 Subunit C1 2 3 5
  • ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C1 2 3
  • Vacuolar Proton Pump Subunit C 1 3 4
  • V-ATPase Subunit C 1 3 4
  • ATP6C 3 4
  • ATP6D 3 4
  • VATC 3 4
  • ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C, Isoform 1 2
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 42kD 2
  • H(+)-Transporting Two-Sector ATPase, Subunit C 3
  • Subunit C Of Vacuolar Proton-ATPase V1 Domain 3
  • Vacuolar Proton-ATPase, Subunit C, VI Domain 3
  • H+-Transporting ATPase Chain C, Vacuolar 3
  • Vacuolar Proton Pump, 42-KD Subunit 3
  • V-Type Proton ATPase Subunit C 1 3
  • Testicular Tissue Protein Li 223 3
  • Vacuolar ATP Synthase Subunit C 3
  • Vacuolar Proton Pump C Subunit 3
  • H+ -ATPase C Subunit 3
  • V-ATPase C Subunit 3
  • Vma5 3

External Ids for ATP6V1C1 Gene

Previous HGNC Symbols for ATP6V1C1 Gene

  • ATP6D
  • ATP6C

Previous GeneCards Identifiers for ATP6V1C1 Gene

  • GC08P104101
  • GC08P103702
  • GC08P103989
  • GC08P104102
  • GC08P104033
  • GC08P099233

Summaries for ATP6V1C1 Gene

Entrez Gene Summary for ATP6V1C1 Gene

  • 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]

GeneCards Summary for ATP6V1C1 Gene

ATP6V1C1 (ATPase H+ Transporting V1 Subunit C1) is a Protein Coding gene. Among its related pathways are Rheumatoid arthritis and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include transporter activity and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V1C2.

UniProtKB/Swiss-Prot for ATP6V1C1 Gene

  • Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Tocris Summary for ATP6V1C1 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V1C1 Gene

Additional gene information for ATP6V1C1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1C1 Gene

Genomics for ATP6V1C1 Gene

GeneHancer (GH) Regulatory Elements for ATP6V1C1 Gene

Promoters and enhancers for ATP6V1C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J103020 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 656.1 +0.1 136 2.2 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ATP6V1C1 ENSG00000254236 UBR5 FZD6 KLF10 SLC25A32 AZIN1
GH08J103073 Enhancer 0.9 Ensembl ENCODE 29.7 +52.9 52874 1.3 CTCF RB1 NFXL1 RAD21 RFX5 POLR2A SCRT2 ZNF143 SMC3 ZNF444 ATP6V1C1 LINC01181 PIR47023 MTND1P5
GH08J102961 Enhancer 0.9 Ensembl ENCODE 18 -59.3 -59286 0.9 CTCF ESRRA USF1 MAX SIN3A BATF RAD21 ZFHX2 CTBP1 EED ATP6V1C1 NPM1P52 ENSG00000254236 ENSG00000201216 ENSG00000254281 AZIN1-AS1
GH08J103104 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +84.5 84450 2.8 CTCF HCFC1 ZNF398 E4F1 RAD21 ZFHX2 JUND POLR2A ZNF629 CREB1 KLF10 ATP6V1C1 BAALC AZIN1 SLC25A32 MTCO2P4 LINC01181
GH08J102994 Enhancer 0.4 ENCODE 38.5 -25.3 -25286 2.2 BHLHE40 CBFA2T3 FOS ATP6V1C1 ENSG00000254236 NPM1P52 GC08P103006 ENSG00000254281
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP6V1C1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP6V1C1 gene promoter:

Genomic Locations for ATP6V1C1 Gene

Genomic Locations for ATP6V1C1 Gene
chr8:103,021,020-103,073,057
(GRCh38/hg38)
Size:
52,038 bases
Orientation:
Plus strand
chr8:104,033,248-104,085,285
(GRCh37/hg19)

Genomic View for ATP6V1C1 Gene

Genes around ATP6V1C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1C1 Gene

Proteins for ATP6V1C1 Gene

  • Protein details for ATP6V1C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21283-VATC1_HUMAN
    Recommended name:
    V-type proton ATPase subunit C 1
    Protein Accession:
    P21283

    Protein attributes for ATP6V1C1 Gene

    Size:
    382 amino acids
    Molecular mass:
    43942 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c, c and d).

neXtProt entry for ATP6V1C1 Gene

Post-translational modifications for ATP6V1C1 Gene

  • Ubiquitination at Lys147
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1C1 Gene

No data available for DME Specific Peptides for ATP6V1C1 Gene

Domains & Families for ATP6V1C1 Gene

Gene Families for ATP6V1C1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATP6V1C1 Gene

Suggested Antigen Peptide Sequences for ATP6V1C1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21283

UniProtKB/Swiss-Prot:

VATC1_HUMAN :
  • Belongs to the V-ATPase C subunit family.
Family:
  • Belongs to the V-ATPase C subunit family.
genes like me logo Genes that share domains with ATP6V1C1: view

Function for ATP6V1C1 Gene

Molecular function for ATP6V1C1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Phenotypes From GWAS Catalog for ATP6V1C1 Gene

Gene Ontology (GO) - Molecular Function for ATP6V1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 8250920
GO:0005515 protein binding IPI 16415858
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA --
GO:0015078 proton transmembrane transporter activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism TAS 8250920
genes like me logo Genes that share ontologies with ATP6V1C1: view
genes like me logo Genes that share phenotypes with ATP6V1C1: view

Animal Models for ATP6V1C1 Gene

MGI Knock Outs for ATP6V1C1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1C1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP6V1C1 Gene

Localization for ATP6V1C1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1C1 gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 5
plasma membrane 4
nucleus 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP6V1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain IBA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA,IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with ATP6V1C1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1C1 Gene

Pathways & Interactions for ATP6V1C1 Gene

genes like me logo Genes that share pathways with ATP6V1C1: view

Gene Ontology (GO) - Biological Process for ATP6V1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
genes like me logo Genes that share ontologies with ATP6V1C1: view

No data available for SIGNOR curated interactions for ATP6V1C1 Gene

Drugs & Compounds for ATP6V1C1 Gene

(6) Drugs for ATP6V1C1 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thonzonium Approved Pharma Target, inhibitor 0
Water Approved Pharma 0
D-tartaric acid Experimental Pharma Target 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(2) Additional Compounds for ATP6V1C1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2

(2) Tocris Compounds for ATP6V1C1 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
genes like me logo Genes that share compounds with ATP6V1C1: view

Transcripts for ATP6V1C1 Gene

mRNA/cDNA for ATP6V1C1 Gene

Unigene Clusters for ATP6V1C1 Gene

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1C1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1C1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: -
SP3:

Relevant External Links for ATP6V1C1 Gene

GeneLoc Exon Structure for
ATP6V1C1
ECgene alternative splicing isoforms for
ATP6V1C1

Expression for ATP6V1C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP6V1C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP6V1C1 Gene

This gene is overexpressed in Frontal cortex (16.4), Brain (12.7), and Retina (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP6V1C1 Gene



Protein tissue co-expression partners for ATP6V1C1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1C1 Gene:

ATP6V1C1

SOURCE GeneReport for Unigene cluster for ATP6V1C1 Gene:

Hs.86905

mRNA Expression by UniProt/SwissProt for ATP6V1C1 Gene:

P21283-VATC1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATP6V1C1 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with ATP6V1C1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1C1 Gene

Orthologs for ATP6V1C1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1C1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1C1 34 33
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1C1 34 33
  • 94.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V1C1 34 33
  • 93.89 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1C1 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1c1 33
  • 89.97 (n)
mouse
(Mus musculus)
Mammalia Atp6v1c1 16 34 33
  • 89.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V1C1 34 33
  • 83.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1C1 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1c1 33
  • 81.5 (n)
MGC75601 33
zebrafish
(Danio rerio)
Actinopterygii atp6v1c1b 34
  • 82 (a)
OneToMany
atp6v1c1a 34 33
  • 76.44 (n)
OneToMany
atp6v1c1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2415 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005845 33
  • 61.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta Vha44 34 35 33
  • 60.79 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-11 34
  • 55 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA5 34 33
  • 48.35 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F26114g 33
  • 47.16 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons DET3 33
  • 49.24 (n)
rice
(Oryza sativa)
Liliopsida Os05g0593100 33
  • 49.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3174 34
  • 57 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09897 33
  • 48.27 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma5 33
  • 46.29 (n)
Species where no ortholog for ATP6V1C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V1C1 Gene

ENSEMBL:
Gene Tree for ATP6V1C1 (if available)
TreeFam:
Gene Tree for ATP6V1C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1C1: view image

Paralogs for ATP6V1C1 Gene

Paralogs for ATP6V1C1 Gene

(1) SIMAP similar genes for ATP6V1C1 Gene using alignment to 2 proteins:

  • VATC1_HUMAN
  • E7EV59_HUMAN
genes like me logo Genes that share paralogs with ATP6V1C1: view

Variants for ATP6V1C1 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1C1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000010313 -- 103,044,858(+) C/G/T intron_variant
rs1000097426 -- 103,043,731(+) CC/C intron_variant
rs1000119698 -- 103,019,776(+) T/C upstream_transcript_variant
rs1000120186 -- 103,051,909(+) A/G intron_variant
rs1000160213 -- 103,059,897(+) CCC/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1C1 Gene

Variant ID Type Subtype PubMed ID
esv33118 CNV loss 17666407
nsv831413 CNV gain 17160897

Variation tolerance for ATP6V1C1 Gene

Residual Variation Intolerance Score: 25.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V1C1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1C1 Gene

Disorders for ATP6V1C1 Gene

Additional Disease Information for ATP6V1C1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ATP6V1C1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6V1C1 Gene

Publications for ATP6V1C1 Gene

  1. Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PMID: 8250920) van Hille B … Bilbe G (Biochemical and biophysical research communications 1993) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PMID: 14580332) Smith AN … Karet FE (Molecular cell 2003) 2 3 58

Products for ATP6V1C1 Gene

Sources for ATP6V1C1 Gene

Content
Loading form....