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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 compose... See more...
Aliases for ATP6V1C1 Gene
Aliases for ATP6V1C1 Gene
- ATPase H+ Transporting V1 Subunit C1 2 3 5
- VATC 2 3 4
- ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C1 2 3
- V-Type Proton ATPase Subunit C 1 3 4
- Vacuolar Proton Pump Subunit C 1 3 4
- V-ATPase Subunit C 1 3 4
- ATP6C 3 4
- ATP6D 3 4
- Vma5 2 3
- 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
- ATP6V1C1 5
External Ids for ATP6V1C1 Gene
- HGNC: 856
- NCBI Entrez Gene: 528
- Ensembl: ENSG00000155097
- OMIM®: 603097
- UniProtKB/Swiss-Prot: P21283
Previous HGNC Symbols for ATP6V1C1 Gene
- ATP6D
- ATP6C
Previous GeneCards Identifiers for ATP6V1C1 Gene
- GC08P104101
- GC08P103702
- GC08P103989
- GC08P104102
- GC08P104033
- GC08P099233
Summaries 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. Diseases associated with ATP6V1C1 include Autosomal Recessive Distal Renal Tubular Acidosis. Among its related pathways are Insulin receptor recycling and Rheumatoid arthritis. 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 Summary 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.
-
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.
Additional gene information for ATP6V1C1 Gene
- HGNC (856)
- NCBI Entrez Gene (528)
- Ensembl (ENSG00000155097)
- OMIM® (603097)
- UniProtKB/Swiss-Prot (P21283)
- Open Targets Platform(ENSG00000155097)
- Alliance of Genome Resources
- Search for ATP6V1C1 at DataMed
- Search for ATP6V1C1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1C1 Gene
Genomics for ATP6V1C1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATP6V1C1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATP6V1C1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1C1
- Top Transcription factor binding sites by QIAGEN in the ATP6V1C1 gene promoter:
-
- AhR
- aMEF-2
- AML1a
- Arnt
- Evi-1
- HSF2
- IRF-1
- MEF-2A
- Pax-2
- Pax-2a
Genomic Locations for ATP6V1C1 Gene
Latest Assembly
- chr8:103,021,063-103,073,051
- (GRCh38/hg38)
- Size:
- 51,989 bases
- Orientation:
- Plus strand
Previous Assembly
- chr8:104,033,311-104,085,279
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 51,969 bases
- Orientation:
- Plus strand
Genomic View for ATP6V1C1 Gene
Genes around ATP6V1C1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q22.3 by HGNC
- 8q22.3 by Entrez Gene
- 8q22.3 by Ensembl
ATP6V1C1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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).
Protein Expression for ATP6V1C1 Gene
Post-translational modifications for ATP6V1C1 Gene
Other Protein References for ATP6V1C1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for ATP6V1C1
- Novus Biologicals Antibodies for ATP6V1C1
-
Abcam antibodies for ATP6V1C1
- Invitrogen Antibodies for ATP6V1C1 (AFLGC-ATP6V1C1)
-
Boster Bio Antibodies for ATP6V1C1
-
Custom Antibody ServicesProSci Antibodies for ATP6V1C1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATP6V1C1
- Sino Biological Antibodies for ATP6V1C1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP6V1C1
- Origene Custom Protein Services for ATP6V1C1
-
Abcam proteins for ATP6V1C1
Assay products for research
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):
-
- FDA approved drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for ATP6V1C1 Gene
- InterPro:
- Blocks:
-
- V-ATPase subunit C
Suggested Antigen Peptide Sequences for ATP6V1C1 Gene
- GenScript: Design optimal peptide antigens:
-
- Vacuolar proton pump subunit C 1 (VATC1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P21283- Family:
-
- Belongs to the V-ATPase C subunit family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005215 | transporter activity | NAS | 8250920 |
| GO:0005515 | protein binding | IPI | 16415858 |
| GO:0015078 | proton transmembrane transporter activity | IEA | -- |
| GO:0046961 | proton-transporting ATPase activity, rotational mechanism | IBA | 21873635 |
Phenotypes for ATP6V1C1 Gene
- MGI mutant phenotypes for ATP6V1C1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ATP6V1C1:
Animal Models for ATP6V1C1 Gene
- MGI Knock Outs for ATP6V1C1:
-
- Atp6v1c1 Atp6v1c1<tm1b(NCOM)Mfgc>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATP6V1C1 - Starting at $85 >
- * ATP6V1C1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATP6V1C1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6V1C1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V1C1
miRNA for ATP6V1C1 Gene
- miRTarBase miRNAs that target ATP6V1C1
-
- hsa-miR-155-5p (MIRT001565)
- hsa-miR-374b-5p (MIRT016047)
- hsa-miR-130b-3p (MIRT020236)
- hsa-miR-128-3p (MIRT021977)
- hsa-miR-1-3p (MIRT023601)
- hsa-miR-30a-5p (MIRT028462)
- hsa-miR-19b-3p (MIRT031155)
- hsa-miR-30c-5p (MIRT047877)
- hsa-miR-8063 (MIRT223595)
- hsa-miR-16-2-3p (MIRT223632)
- hsa-miR-130a-3p (MIRT223634)
- hsa-miR-195-3p (MIRT223635)
- hsa-miR-301a-3p (MIRT223636)
- hsa-miR-519c-3p (MIRT223637)
- hsa-miR-519b-3p (MIRT223638)
- hsa-miR-519a-3p (MIRT223639)
- hsa-miR-454-3p (MIRT223641)
- hsa-miR-301b-3p (MIRT223642)
- hsa-miR-1262 (MIRT223643)
- hsa-miR-4295 (MIRT223644)
- hsa-miR-3666 (MIRT223645)
- hsa-miR-4506 (MIRT223646)
- hsa-miR-4701-3p (MIRT223647)
- hsa-miR-6736-5p (MIRT223648)
- hsa-miR-6502-3p (MIRT539056)
- hsa-miR-6512-5p (MIRT539057)
- hsa-miR-520e (MIRT539058)
- hsa-miR-520d-3p (MIRT539059)
- hsa-miR-520c-3p (MIRT539060)
- hsa-miR-520b (MIRT539061)
- hsa-miR-520a-3p (MIRT539062)
- hsa-miR-373-3p (MIRT539063)
- hsa-miR-372-3p (MIRT539064)
- hsa-miR-302e (MIRT539065)
- hsa-miR-302d-3p (MIRT539066)
- hsa-miR-302c-3p (MIRT539067)
- hsa-miR-302b-3p (MIRT539068)
- hsa-miR-302a-3p (MIRT539069)
- hsa-miR-7161-5p (MIRT539070)
- hsa-miR-548u (MIRT539071)
- hsa-miR-5187-3p (MIRT713170)
- hsa-miR-4715-3p (MIRT713171)
- hsa-miR-3064-3p (MIRT713172)
- hsa-miR-6881-3p (MIRT713173)
- hsa-miR-877-3p (MIRT713174)
- hsa-miR-4317 (MIRT713175)
- hsa-miR-4668-3p (MIRT713176)
- hsa-miR-548e-5p (MIRT713177)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6V1C1
- Browse OriGene Inhibitory RNA Products For ATP6V1C1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1C1
Clone products for research
- Applied Biological Materials (abm): Clones for ATP6V1C1 - Starting at $45 >
- * ATP6V1C1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATP6V1C1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6V1C1
Cell Lines for research
-
Horizon Cell Lines for ATP6V1C1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP6V1C1 Gene
Localization for ATP6V1C1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 4 |
| lysosome | 4 |
| nucleus | 3 |
| peroxisome | 2 |
| endosome | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000221 | vacuolar proton-transporting V-type ATPase, V1 domain | IBA | 21873635 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IEA,ISS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1C1 Gene
Pathways & Interactions for ATP6V1C1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Insulin receptor recycling | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | PI3K-Akt signaling pathway | ||
| 4 | Metabolism | ||
| 5 | mTOR signaling pathway (KEGG) | ||
Pathways by source for ATP6V1C1 Gene
10 Reactome pathways for ATP6V1C1 Gene
Interacting Proteins for ATP6V1C1 Gene
Selected Interacting proteins:
P21283-VATC1_HUMAN
ENSP00000379203
for ATP6V1C1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ATP6V1C1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0008286 | insulin receptor signaling pathway | TAS | -- |
| GO:0016241 | regulation of macroautophagy | NAS | 22982048 |
| GO:0033572 | transferrin transport | TAS | -- |
| GO:0034220 | ion transmembrane transport | TAS | -- |
No data available for SIGNOR curated interactions for ATP6V1C1 Gene
Drugs & Compounds for ATP6V1C1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
58-64-0 |
|
(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 |
Transcripts for ATP6V1C1 Gene
mRNA/cDNA for ATP6V1C1 Gene
- 2 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000395862 5612 nts (view in UCSC)
- ENST00000518738 5635 nts (view in UCSC)
- ENST00000518857 1501 nts (view in UCSC)
- ENST00000518959 553 nts (view in UCSC)
- ENST00000521514 1484 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATP6V1C1 - Starting at $85 >
- * ATP6V1C1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATP6V1C1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6V1C1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V1C1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6V1C1
- Browse OriGene Inhibitory RNA Products For ATP6V1C1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1C1
Clone products for research
- Applied Biological Materials (abm): Clones for ATP6V1C1 - Starting at $45 >
- * ATP6V1C1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATP6V1C1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6V1C1
| 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
Expression for ATP6V1C1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
- Thyroid (Endocrine System)
- Neural Tube (Nervous System)
- Intestine (Gastrointestinal Tract)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1C1
SOURCE GeneReport for Unigene cluster for ATP6V1C1 Gene:
Hs.86905mRNA 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(4.4)
- Bone marrow(4.3)
- Kidney(2.4)
- Spleen(2)
- Thyroid gland(2)
Primer products for research
-
OriGene qPCR primer pairs for ATP6V1C1
-
OriGene qPCR primer pairs and template standards for ATP6V1C1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATP6V1C1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATP6V1C1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATP6V1C1 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP6V1C1 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atp6v1c1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Atp6v1c1 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| -- 30 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | ATP6V1C1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATP6V1C1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp6v1c1 29 |
|
||
| MGC75601 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | atp6v1c1b 30 |
|
OneToMany | |
| atp6v1c1a 29 30 |
|
OneToMany | |||
| atp6v1c1 29 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2415 29 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005845 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Vha44 29 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | vha-11 30 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VMA5 29 30 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F26114g 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | DET3 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os05g0593100 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3174 30 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU09897 29 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | vma5 29 |
|
- Species where no ortholog for ATP6V1C1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
- Alliance of Genome Resources:
- Additional Orthologs for ATP6V1C1
Paralogs for ATP6V1C1 Gene
Variants for ATP6V1C1 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1C1 Gene
Disorders for ATP6V1C1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autosomal recessive distal renal tubular acidosis |
|
|
Search ATP6V1C1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ATP6V1C1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V1C1 Gene
Publications for ATP6V1C1 Gene
- 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
- 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 40
- 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 40
- 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
- Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PMID: 14580332) Smith AN … Karet FE (Molecular cell 2003) 2 3
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