Details for: ATP6V1E1

Gene ID: 529

Symbol: ATP6V1E1

Ensembl ID: ENSG00000131100

Description: ATPase H+ transporting V1 subunit E1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.5
    Marker Score: 4141
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.21
    Marker Score: 4482
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 2.17
    Marker Score: 1159.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.1
    Marker Score: 8258
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.06
    Marker Score: 52648
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.03
    Marker Score: 2455
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.92
    Marker Score: 16576
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.92
    Marker Score: 1812.5
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.84
    Marker Score: 1014
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 1.79
    Marker Score: 2589
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.77
    Marker Score: 1208
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.76
    Marker Score: 2832
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.75
    Marker Score: 873
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.72
    Marker Score: 4350
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.68
    Marker Score: 5980
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.67
    Marker Score: 3138
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.63
    Marker Score: 7011
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.62
    Marker Score: 364
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.55
    Marker Score: 10121
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.54
    Marker Score: 2270
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.54
    Marker Score: 12013
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.51
    Marker Score: 15633
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.49
    Marker Score: 4000
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.49
    Marker Score: 939
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.48
    Marker Score: 1662
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.48
    Marker Score: 1856
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.47
    Marker Score: 1549
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.45
    Marker Score: 2089
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.45
    Marker Score: 2309
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.44
    Marker Score: 5550
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.44
    Marker Score: 2546
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.43
    Marker Score: 1986
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.42
    Marker Score: 5817
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.42
    Marker Score: 1507
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 1.41
    Marker Score: 614
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.41
    Marker Score: 1427
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 1.38
    Marker Score: 3443
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.38
    Marker Score: 330
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.37
    Marker Score: 388
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.37
    Marker Score: 315
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.36
    Marker Score: 547
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 1.36
    Marker Score: 3448
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.36
    Marker Score: 4024
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.35
    Marker Score: 83256
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.35
    Marker Score: 390
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.35
    Marker Score: 887
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.34
    Marker Score: 330
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.33
    Marker Score: 1526
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.32
    Marker Score: 15381
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.31
    Marker Score: 1321
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.31
    Marker Score: 875.5
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.31
    Marker Score: 3623
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.31
    Marker Score: 1851
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.31
    Marker Score: 1308
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.3
    Marker Score: 3548.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.3
    Marker Score: 11197
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.3
    Marker Score: 2599
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.3
    Marker Score: 1373
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.29
    Marker Score: 1078
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.29
    Marker Score: 433
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.28
    Marker Score: 478
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.28
    Marker Score: 911
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.28
    Marker Score: 12673
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.28
    Marker Score: 12150
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.27
    Marker Score: 2653
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.27
    Marker Score: 1132
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.27
    Marker Score: 1633
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.26
    Marker Score: 4683
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.25
    Marker Score: 14066
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.25
    Marker Score: 1461
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.24
    Marker Score: 615
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.24
    Marker Score: 3259
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.24
    Marker Score: 1339
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.24
    Marker Score: 1912
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.23
    Marker Score: 1281
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.23
    Marker Score: 6452
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.23
    Marker Score: 717
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.22
    Marker Score: 2004
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.22
    Marker Score: 2780
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.22
    Marker Score: 286
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.22
    Marker Score: 1092
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.22
    Marker Score: 68014
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.21
    Marker Score: 496
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.21
    Marker Score: 1259
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 1.21
    Marker Score: 270
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1.21
    Marker Score: 320
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.21
    Marker Score: 354
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.21
    Marker Score: 2841
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.21
    Marker Score: 3439.5
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 1.2
    Marker Score: 342
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.2
    Marker Score: 358
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.2
    Marker Score: 1144
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.2
    Marker Score: 944
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.2
    Marker Score: 2922.5
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.19
    Marker Score: 1312
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.19
    Marker Score: 676
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.18
    Marker Score: 1425
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.18
    Marker Score: 493
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 1.18
    Marker Score: 294
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 1.18
    Marker Score: 323

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Other Information

**Key characteristics:** * The gene is located on chromosome 19q27.1. * It encodes a protein of approximately 120 kDa. * The protein is a member of the ATPase family of proteins, which are responsible for transporting protons across the mitochondrial inner membrane. * The V1 subunit of ATPase is responsible for the actual transport of protons. * The E1 subunit is a regulatory subunit that interacts with other proteins to control the activity of the enzyme. **Pathways and functions:** * ATP6V1E1 is involved in multiple cellular pathways, including amino acid metabolism, calcium signaling, and inflammation. * It is a key regulator of mTORC1, an important signaling complex involved in cell growth, metabolism, and proliferation. * The protein is also involved in the regulation of autophagy, the process by which cells break down and recycle their own components. * It plays a role in the regulation of inflammation by interacting with inflammatory signals and modulating the expression of inflammatory genes. **Clinical significance:** * Mutations in the ATP6V1E1 gene have been linked to several human diseases, including amyotrophic lateral sclerosis, renal failure, and diabetes. * These mutations can lead to the accumulation of damaged proteins in cells, resulting in cellular damage and disease. * Therefore, targeting ATP6V1E1 has emerged as a potential therapeutic strategy for 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 1 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 12 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 5 RefSeq 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniProtKB 2 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. For the full schema, download it here.