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Aliases for ATP6V1C1 Gene

Aliases for ATP6V1C1 Gene

  • ATPase H+ Transporting V1 Subunit C1 2 3
  • ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C1 2 3 5
  • 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
  • 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 Synaptic vesicle cycle and Immune System. 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

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

Genomics for ATP6V1C1 Gene

Regulatory Elements for ATP6V1C1 Gene

Enhancers for ATP6V1C1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP6V1C1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V1C1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6V1C1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V1C1 Gene

Chromosome:
8
Start:
103,021,020 bp from pter
End:
103,073,057 bp from pter
Size:
52,038 bases
Orientation:
Plus strand

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

Proteomics data for ATP6V1C1 Gene at MOPED

Post-translational modifications for ATP6V1C1 Gene

  • Ubiquitination at Lys 147
  • 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 :

Protein Domains for ATP6V1C1 Gene

InterPro:
Blocks:
ProtoNet:

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.
genes like me logo Genes that share phenotypes with ATP6V1C1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1C1 Gene

Localization for ATP6V1C1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V1C1 Gene COMPARTMENTS Subcellular localization image for ATP6V1C1 gene
Compartment Confidence
cytosol 5
extracellular 5
lysosome 5
vacuole 5
plasma membrane 4
nucleus 3
peroxisome 2

Gene Ontology (GO) - Cellular Components for ATP6V1C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0033180 proton-transporting V-type ATPase, V1 domain IEA --
GO:0070062 extracellular exosome IDA 19056867
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:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0055085 transmembrane transport TAS --
GO:0090382 phagosome maturation TAS --
GO:0090383 phagosome acidification 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
D-tartaric acid Experimental Pharma Target 0
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0

(5) Additional Compounds for ATP6V1C1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Concanamycin A
80890-47-7
Enterostatin
117830-79-2

(4) 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
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
Enterostatin Binds to beta-subunit of F1-ATPase; anorexigenic peptide 117830-79-2
genes like me logo Genes that share compounds with ATP6V1C1: view

Transcripts for ATP6V1C1 Gene

Unigene Clusters for ATP6V1C1 Gene

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

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 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, PaxDb, MOPED, and MaxQB for ATP6V1C1 Gene



SOURCE GeneReport for Unigene cluster for ATP6V1C1 Gene Hs.86905

mRNA Expression by UniProt/SwissProt for ATP6V1C1 Gene

P21283-VATC1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATP6V1C1: view

Protein tissue co-expression partners for ATP6V1C1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ATP6V1C1 35
  • 93.89 (n)
  • 98.95 (a)
ATP6V1C1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1C1 35
  • 94.42 (n)
  • 99.21 (a)
ATP6V1C1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1c1 35
  • 89.44 (n)
  • 98.17 (a)
Atp6v1c1 16
Atp6v1c1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1C1 35
  • 99.91 (n)
  • 100 (a)
ATP6V1C1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1c1 35
  • 89.97 (n)
  • 97.91 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 60 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1C1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V1C1 35
  • 83.6 (n)
  • 94.5 (a)
ATP6V1C1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1C1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1c1 35
  • 81.5 (n)
  • 95.03 (a)
MGC75601 35
zebrafish
(Danio rerio)
Actinopterygii atp6v1c1 35
atp6v1c1a 35
  • 76.44 (n)
  • 88.48 (a)
atp6v1c1a 36
  • 88 (a)
OneToMany
atp6v1c1b 36
  • 82 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2415 35
fruit fly
(Drosophila melanogaster)
Insecta Vha44 37
  • 63 (a)
Vha44 35
  • 60.79 (n)
  • 65 (a)
Vha44 36
  • 29 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005845 35
  • 61.17 (n)
  • 66.23 (a)
worm
(Caenorhabditis elegans)
Secernentea vha-11 36
  • 55 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F26114g 35
  • 47.16 (n)
  • 39.41 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA5 35
  • 48.35 (n)
  • 39.34 (a)
VMA5 36
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons DET3 35
  • 49.24 (n)
  • 40.16 (a)
rice
(Oryza sativa)
Liliopsida Os05g0593100 35
  • 49.37 (n)
  • 42.16 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09897 35
  • 48.27 (n)
  • 38.25 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma5 35
  • 46.29 (n)
  • 31.1 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3174 36
  • 57 (a)
OneToMany
Species with no ortholog for ATP6V1C1:
  • 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)

Paralogs for ATP6V1C1 Gene

Paralogs for ATP6V1C1 Gene

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

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 Sequence Context AA Info Type
rs2047378 -- 103,025,453(-) CTGTA(A/T)CCTCA intron-variant
rs2048549 -- 103,023,907(+) TTTTG(G/T)GGGGG intron-variant
rs2048550 -- 103,023,932(+) GAAGA(G/T)TCAGC intron-variant
rs2132861 -- 103,031,795(-) TTGAT(A/G)CTGCT intron-variant
rs2132862 -- 103,072,814(+) ACTGC(C/T)GCCTG utr-variant-3-prime

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ATP6V1C1 Gene

Disorders for ATP6V1C1 Gene

Relevant External Links for ATP6V1C1

Genetic Association Database (GAD)
ATP6V1C1
Human Genome Epidemiology (HuGE) Navigator
ATP6V1C1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1C1

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. (Biochem. Biophys. Res. Commun. 1993) 2 3 4 67
  2. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PMID: 14580332) Smith A.N. … Karet F.E. (Mol. Cell 2003) 2 3
  3. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26
  4. The use of tissue microarrays for semiquantitative evaluation of ATPaseC1 expression is ineffective. (PMID: 25901422) PAcrez-SayA!ns M. … GarcA-a-GarcA-a A. (Biotech Histochem 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ATP6V1C1 Gene

Sources for ATP6V1C1 Gene

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