Details for: ATP6V0C

Gene ID: 527

Symbol: ATP6V0C

Ensembl ID: ENSG00000185883

Description: ATPase H+ transporting V0 subunit c

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 324.6001
    Cell Significance Index: -50.4900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 200.2023
    Cell Significance Index: -50.7800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 117.0912
    Cell Significance Index: -60.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 40.9909
    Cell Significance Index: -50.5400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 9.6054
    Cell Significance Index: 134.7300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 6.7103
    Cell Significance Index: 124.0300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 6.1439
    Cell Significance Index: 176.1200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 4.3692
    Cell Significance Index: 40.2400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.7703
    Cell Significance Index: 48.2900
  • Cell Name: germ cell (CL0000586)
    Fold Change: 3.3166
    Cell Significance Index: 25.0400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 3.0558
    Cell Significance Index: 70.6000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.7200
    Cell Significance Index: 490.3300
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 2.5090
    Cell Significance Index: 21.5600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.4415
    Cell Significance Index: 300.2100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.1003
    Cell Significance Index: 421.3100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.0113
    Cell Significance Index: 59.0700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.5444
    Cell Significance Index: 197.9800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.5070
    Cell Significance Index: 540.5200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.4559
    Cell Significance Index: 171.6900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0911
    Cell Significance Index: 207.6500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.9783
    Cell Significance Index: 60.1300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9037
    Cell Significance Index: 98.2900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6017
    Cell Significance Index: 543.3000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.5000
    Cell Significance Index: 5.6800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4753
    Cell Significance Index: 32.8700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2204
    Cell Significance Index: 35.8400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1539
    Cell Significance Index: 15.2300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0740
    Cell Significance Index: 1.8500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0463
    Cell Significance Index: 0.2800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0036
    Cell Significance Index: 0.2000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0014
    Cell Significance Index: -0.0400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0028
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0092
    Cell Significance Index: -5.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0202
    Cell Significance Index: -14.9600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0276
    Cell Significance Index: -52.0600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0657
    Cell Significance Index: -49.7300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0678
    Cell Significance Index: -37.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0715
    Cell Significance Index: -40.3000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0720
    Cell Significance Index: -2.5300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0798
    Cell Significance Index: -58.5400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0899
    Cell Significance Index: -18.9300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0937
    Cell Significance Index: -59.5300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0974
    Cell Significance Index: -4.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1241
    Cell Significance Index: -56.3200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.1379
    Cell Significance Index: -60.9900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1545
    Cell Significance Index: -26.3900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1613
    Cell Significance Index: -6.6100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1747
    Cell Significance Index: -17.8500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1841
    Cell Significance Index: -25.2800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1922
    Cell Significance Index: -55.3000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2931
    Cell Significance Index: -7.0300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3220
    Cell Significance Index: -36.8900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3315
    Cell Significance Index: -38.6300
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.3552
    Cell Significance Index: -1.6400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3609
    Cell Significance Index: -7.6600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3723
    Cell Significance Index: -9.9400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3862
    Cell Significance Index: -29.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3942
    Cell Significance Index: -57.3000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4054
    Cell Significance Index: -46.2800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.4201
    Cell Significance Index: -54.2800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5011
    Cell Significance Index: -52.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.5059
    Cell Significance Index: -22.9300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.5489
    Cell Significance Index: -11.8600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5522
    Cell Significance Index: -14.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5650
    Cell Significance Index: -34.6400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5879
    Cell Significance Index: -19.2500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6190
    Cell Significance Index: -19.7200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6469
    Cell Significance Index: -20.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6669
    Cell Significance Index: -29.5000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6971
    Cell Significance Index: -14.5500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7151
    Cell Significance Index: -45.0700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.7223
    Cell Significance Index: -53.8300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.7302
    Cell Significance Index: -14.6600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7508
    Cell Significance Index: -59.4600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.7672
    Cell Significance Index: -15.1700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.8193
    Cell Significance Index: -28.7000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.8308
    Cell Significance Index: -6.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.8513
    Cell Significance Index: -32.2400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.8550
    Cell Significance Index: -40.1900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.8994
    Cell Significance Index: -24.4800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.9096
    Cell Significance Index: -58.6900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.9107
    Cell Significance Index: -24.3600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.9270
    Cell Significance Index: -65.5600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.9352
    Cell Significance Index: -16.1700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.9465
    Cell Significance Index: -23.6100
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: -0.9510
    Cell Significance Index: -4.6300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.9629
    Cell Significance Index: -50.0200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.9851
    Cell Significance Index: -51.7200
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -1.0022
    Cell Significance Index: -6.5200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.0480
    Cell Significance Index: -54.5900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -1.0779
    Cell Significance Index: -13.3700
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -1.0925
    Cell Significance Index: -11.3800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.2906
    Cell Significance Index: -26.2600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.3190
    Cell Significance Index: -61.5000
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -1.3359
    Cell Significance Index: -26.1200
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -1.3573
    Cell Significance Index: -26.7200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.3955
    Cell Significance Index: -29.7200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.4355
    Cell Significance Index: -52.7000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -1.5034
    Cell Significance Index: -23.2600
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -1.5673
    Cell Significance Index: -9.7000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Proton-transporting ATPase complex**: The ATP6V0C gene is part of the V-ATPase complex, which is a proton-pumping enzyme responsible for generating a proton motive force (PMF) across cellular membranes. 2. **V0 subunit c**: The ATP6V0C gene encodes for the V0 subunit c, which is a critical component of the V-ATPase complex, involved in proton transport and regulation of cellular pH homeostasis. 3. **Significant expression in immune cells and epithelial cells**: The ATP6V0C gene is expressed in various immune cells, including monocytes, dendritic cells, and plasma cells, as well as epithelial cells, such as those found in the prostate gland and tracheal goblet cells. 4. **Involvement in multiple cellular processes**: The ATP6V0C gene is involved in various cellular processes, including ion transport, regulation of cellular pH homeostasis, and control of vesicle trafficking and endocytosis. **Pathways and Functions:** 1. **Proton transport and pH homeostasis**: The ATP6V0C gene plays a critical role in maintaining cellular pH homeostasis by regulating proton transport across cellular membranes. 2. **Ion transport**: The V-ATPase complex, including the ATP6V0C gene, is involved in regulating ion transport across cellular membranes, including sodium, potassium, and calcium ions. 3. **Vesicle trafficking and endocytosis**: The ATP6V0C gene is involved in the regulation of vesicle trafficking and endocytosis, including the transport of proteins and lipids across cellular membranes. 4. **Immune system regulation**: The ATP6V0C gene is involved in the regulation of immune responses, including the activation of immune cells and the production of cytokines and chemokines. **Clinical Significance:** 1. **Neurodegenerative disorders**: Abnormal expression or function of the ATP6V0C gene has been implicated in various neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and Huntington's disease. 2. **Immune system dysregulation**: The ATP6V0C gene is involved in the regulation of immune responses, and abnormalities in its expression or function may contribute to immune system dysregulation and autoimmune diseases. 3. **Cancer**: The ATP6V0C gene is overexpressed in various types of cancer, including prostate cancer, breast cancer, and lung cancer, and its expression is associated with poor prognosis and reduced survival rates. In conclusion, the ATP6V0C gene plays a critical role in maintaining cellular pH homeostasis, regulating ion transport, and controlling various cellular processes. Abnormal expression or function of the ATP6V0C gene may contribute to various diseases, including neurodegenerative disorders and immune system dysregulation. Further research is needed to fully understand the clinical significance of the ATP6V0C gene and its potential as a therapeutic target.

Genular Protein ID: 3020301276

Symbol: VATL_HUMAN

Name: N/A

UniProtKB Accession Codes:

P27449 Q6FH26

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 8 EMDB 6 Ensembl 1 ExpressionAtlas 1 GO 26 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 7 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1709739

Title: CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.

PubMed ID: 1709739

DOI: 10.1073/pnas.88.10.4289

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1532310

Title: Vacuolar type H(+)-ATPase genes: presence of four genes including pseudogenes for the 16-kDa proteolipid subunit in the human genome.

PubMed ID: 1532310

DOI: 10.1016/0006-291x(92)90562-y

PubMed ID: 7636472

Title: Mapping of the intermolecular association of human T cell leukaemia/lymphotropic virus type I p12I and the vacuolar H+-ATPase 16 kDa subunit protein.

PubMed ID: 7636472

DOI: 10.1099/0022-1317-76-8-1909

PubMed ID: 11543633

Title: Cloning, mapping, and characterization of a human homologue of the yeast longevity assurance gene LAG1.

PubMed ID: 11543633

DOI: 10.1006/geno.2001.6614

PubMed ID: 18298843

Title: A novel brain-enriched E3 ubiquitin ligase RNF182 is up regulated in the brains of Alzheimer's patients and targets ATP6V0C for degradation.

PubMed ID: 18298843

DOI: 10.1186/1750-1326-3-4

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33190975

Title: Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.

PubMed ID: 33190975

DOI: 10.1016/j.braindev.2020.10.016

PubMed ID: 33065002

Title: Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly.

PubMed ID: 33065002

DOI: 10.1016/j.molcel.2020.09.029

PubMed ID: 35600075

Title: ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus.

PubMed ID: 35600075

DOI: 10.3389/fnmol.2022.889534

PubMed ID: 36074901

Title: ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

PubMed ID: 36074901

DOI: 10.1093/brain/awac330

PubMed ID: 37161035

Title: ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.

PubMed ID: 37161035

DOI: 10.1038/s10038-023-01145-1

Sequence Information:

  • Length: 155
  • Mass: 15736
  • Checksum: 91141854A0492A5B
  • Sequence:
    • MSESKSGPEY ASFFAVMGAS AAMVFSALGA AYGTAKSGTG IAAMSVMRPE QIMKSIIPVV 
MAGIIAIYGL VVAVLIANSL NDDISLYKSF LQLGAGLSVG LSGLAAGFAI GIVGDAGVRG 
TAQQPRLFVG MILILIFAEV LGLYGLIVAL ILSTK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.