Details for: ATP6V1E1

Gene ID: 529

Symbol: ATP6V1E1

Ensembl ID: ENSG00000131100

Description: ATPase H+ transporting V1 subunit E1

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: 269.1822
    Cell Significance Index: -41.8700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 163.8915
    Cell Significance Index: -41.5700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 121.9573
    Cell Significance Index: -50.2400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 101.0542
    Cell Significance Index: -47.7100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 88.2218
    Cell Significance Index: -45.3800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 71.1750
    Cell Significance Index: -47.7600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 38.0062
    Cell Significance Index: -46.8600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 12.7529
    Cell Significance Index: -39.1700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.3997
    Cell Significance Index: -48.9300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.6626
    Cell Significance Index: -31.2400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.5136
    Cell Significance Index: -23.0100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 6.0038
    Cell Significance Index: 160.3100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.7646
    Cell Significance Index: 145.1500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.7418
    Cell Significance Index: 16.0400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4317
    Cell Significance Index: 155.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.3930
    Cell Significance Index: 171.2900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.3874
    Cell Significance Index: 250.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2404
    Cell Significance Index: 248.8300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1495
    Cell Significance Index: 186.9600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.9750
    Cell Significance Index: 114.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9155
    Cell Significance Index: 125.7200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.8590
    Cell Significance Index: 64.0200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7540
    Cell Significance Index: 333.3700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6728
    Cell Significance Index: 43.4100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6319
    Cell Significance Index: 570.6000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6067
    Cell Significance Index: 120.4100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5966
    Cell Significance Index: 325.8000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5885
    Cell Significance Index: 75.4400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5853
    Cell Significance Index: 30.4100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5322
    Cell Significance Index: 190.9100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5075
    Cell Significance Index: 31.9900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.5024
    Cell Significance Index: 23.6100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4425
    Cell Significance Index: 12.0500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4324
    Cell Significance Index: 11.5900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4058
    Cell Significance Index: 18.9200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4012
    Cell Significance Index: 51.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3956
    Cell Significance Index: 27.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3524
    Cell Significance Index: 34.8600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.2141
    Cell Significance Index: 1.6500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1752
    Cell Significance Index: 5.0000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.1607
    Cell Significance Index: 2.9700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1283
    Cell Significance Index: 8.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1121
    Cell Significance Index: 19.1400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0691
    Cell Significance Index: 2.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0678
    Cell Significance Index: 127.7400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0612
    Cell Significance Index: 4.7000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0577
    Cell Significance Index: 43.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0273
    Cell Significance Index: 20.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0170
    Cell Significance Index: 31.3400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0029
    Cell Significance Index: 1.8500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0021
    Cell Significance Index: 3.2800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0023
    Cell Significance Index: -1.7100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0078
    Cell Significance Index: -4.8800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0080
    Cell Significance Index: -0.2300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0182
    Cell Significance Index: -3.4600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0222
    Cell Significance Index: -0.7800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0235
    Cell Significance Index: -10.6500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0253
    Cell Significance Index: -34.3500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0348
    Cell Significance Index: -3.5500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0513
    Cell Significance Index: -28.9400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0521
    Cell Significance Index: -0.9200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0574
    Cell Significance Index: -1.5100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0589
    Cell Significance Index: -2.6700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0878
    Cell Significance Index: -18.4900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0948
    Cell Significance Index: -1.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1359
    Cell Significance Index: -15.5700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1389
    Cell Significance Index: -39.9700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1497
    Cell Significance Index: -2.5100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1503
    Cell Significance Index: -9.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1517
    Cell Significance Index: -17.6800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1559
    Cell Significance Index: -4.4700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1603
    Cell Significance Index: -18.3000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1732
    Cell Significance Index: -6.0200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1760
    Cell Significance Index: -25.5800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2100
    Cell Significance Index: -4.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2895
    Cell Significance Index: -3.9500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3062
    Cell Significance Index: -24.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3825
    Cell Significance Index: -12.2500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4016
    Cell Significance Index: -10.2600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4171
    Cell Significance Index: -18.4500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4244
    Cell Significance Index: -44.1900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4550
    Cell Significance Index: -25.5300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4659
    Cell Significance Index: -13.0200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4768
    Cell Significance Index: -9.8900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5437
    Cell Significance Index: -20.5900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5794
    Cell Significance Index: -13.3900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5983
    Cell Significance Index: -16.0100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6389
    Cell Significance Index: -39.1700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6715
    Cell Significance Index: -19.7800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.6788
    Cell Significance Index: -14.5100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6976
    Cell Significance Index: -5.5700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.7085
    Cell Significance Index: -14.8300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.8163
    Cell Significance Index: -11.6200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.8292
    Cell Significance Index: -5.0100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.8838
    Cell Significance Index: -9.3900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.9261
    Cell Significance Index: -11.0400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.9295
    Cell Significance Index: -22.6800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.9619
    Cell Significance Index: -8.0800
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.9724
    Cell Significance Index: -6.3400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.9788
    Cell Significance Index: -25.1600

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. **V-Type Proton-Transporting ATPase Subunit E1**: The ATP6V1E1 gene encodes for the E1 subunit of the V-ATPase, a hetero-oligomeric enzyme complex that catalyzes the transport of protons across cellular membranes. 2. **Significant Expression in Immune Cells**: The ATP6V1E1 gene is expressed in various immune cells, including alveolar macrophages, Hofbauer cells, and renal intercalated cells, highlighting its importance in immune function. 3. **Proton-Transporting Activity**: The V-ATPase subunit E1 is responsible for the proton-transporting activity of the V-ATPase, which is essential for maintaining acid-base homeostasis and regulating cellular pH. 4. **Regulation of Vesicle Transport**: The V-ATPase subunit E1 is involved in the regulation of vesicle transport, including the endocytosis and exocytosis of proteins and lipids. **Pathways and Functions:** 1. **Immune System**: The ATP6V1E1 gene is involved in the regulation of immune responses, including the production of reactive oxygen species (ROS) and reactive nitrogen species (RNS) in phagocytes. 2. **Cellular Regulation**: The V-ATPase subunit E1 regulates cellular processes, including the regulation of macroautophagy, insulin receptor recycling, and signaling by receptor tyrosine kinases. 3. **Vesicle Transport**: The V-ATPase subunit E1 is involved in the regulation of vesicle transport, including the endocytosis and exocytosis of proteins and lipids. 4. **Proton Transport**: The V-ATPase subunit E1 is responsible for the proton-transporting activity of the V-ATPase, which is essential for maintaining acid-base homeostasis and regulating cellular pH. **Clinical Significance:** 1. **Immune Deficiency**: Mutations in the ATP6V1E1 gene have been associated with immune deficiency disorders, such as chronic granulomatous disease (CGD). 2. **Kidney Disease**: The ATP6V1E1 gene is involved in the regulation of kidney function, and mutations in this gene have been associated with kidney disease, including nephrocalcinosis and nephrolithiasis. 3. **Neurological Disorders**: The V-ATPase subunit E1 is involved in the regulation of synaptic vesicle function and neurotransmitter release, and alterations in this gene have been associated with neurological disorders, such as epilepsy and Alzheimer's disease. In conclusion, the ATP6V1E1 gene plays a crucial role in immune function, cellular regulation, and vesicle transport, and its dysregulation has been implicated in various diseases, including immune deficiency disorders, kidney disease, and neurological disorders. Further research is needed to fully elucidate the mechanisms by which the V-ATPase subunit E1 regulates cellular processes and to develop therapeutic strategies for the treatment of these diseases.

Genular Protein ID: 3353807900

Symbol: VATE1_HUMAN

Name: V-type proton ATPase subunit E 1

UniProtKB Accession Codes:

P36543 A8MUE4 A8MUN4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 CarbonylDB 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 9 EMDB 2 Ensembl 3 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 6 RefSeq 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1533641

Title: Immunologic evidence that vacuolar H+ ATPases with heterogeneous forms of Mr = 31,000 subunit have different membrane distributions in mammalian kidney.

PubMed ID: 1533641

DOI: 10.1016/s0021-9258(19)50184-3

PubMed ID: 8004105

Title: The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22.

PubMed ID: 8004105

DOI: 10.1093/hmg/3.2.335

PubMed ID: 8250920

Title: Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase.

PubMed ID: 8250920

DOI: 10.1006/bbrc.1993.2434

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 11399750

Title: Interaction between aldolase and vacuolar H+-ATPase: evidence for direct coupling of glycolysis to the ATP-hydrolyzing proton pump.

PubMed ID: 11399750

DOI: 10.1074/jbc.m008768200

PubMed ID: 12036578

Title: A human gene, ATP6E1, encoding a testis-specific isoform of H(+)-ATPase subunit E.

PubMed ID: 12036578

DOI: 10.1016/s0378-1119(02)00542-5

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 20717956

Title: Rab11b and its effector Rip11 regulate the acidosis-induced traffic of V-ATPase in salivary ducts.

PubMed ID: 20717956

DOI: 10.1002/jcp.22388

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 28065471

Title: Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa.

PubMed ID: 28065471

DOI: 10.1016/j.ajhg.2016.12.010

PubMed ID: 29993276

Title: H+-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney.

PubMed ID: 29993276

DOI: 10.1152/ajprenal.00539.2017

PubMed ID: 32001091

Title: Structure and Roles of V-type ATPases.

PubMed ID: 32001091

DOI: 10.1016/j.tibs.2019.12.007

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: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 226
  • Mass: 26145
  • Checksum: DFD0D44E6D9AEA17
  • Sequence:
    • MALSDADVQK QIKHMMAFIE QEANEKAEEI DAKAEEEFNI EKGRLVQTQR LKIMEYYEKK 
EKQIEQQKKI QMSNLMNQAR LKVLRARDDL ITDLLNEAKQ RLSKVVKDTT RYQVLLDGLV 
LQGLYQLLEP RMIVRCRKQD FPLVKAAVQK AIPMYKIATK NDVDVQIDQE SYLPEDIAGG 
VEIYNGDRKI KVSNTLESRL DLIAQQMMPE VRGALFGANA NRKFLD

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.