ATP6V1E1 | ENSG00000131100 | NCBI 529

Details for: ATP6V1E1

Associated with

Amino acids regulate mtorc1
(R-HSA-9639288)
Cellular responses to stimuli
(R-HSA-8953897)
Cellular responses to stress
(R-HSA-2262752)
Cellular response to starvation
(R-HSA-9711097)
Developmental biology
(R-HSA-1266738)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Insulin receptor recycling
(R-HSA-77387)
Ion channel transport
(R-HSA-983712)
Iron uptake and transport
(R-HSA-917937)
Mitf-m-dependent gene expression
(R-HSA-9856651)
Mitf-m-regulated melanocyte development
(R-HSA-9730414)
Regulation of mitf-m-dependent genes involved in lysosome biogenesis and autophagy
(R-HSA-9857377)
Ros and rns production in phagocytes
(R-HSA-1222556)
Signaling by insulin receptor
(R-HSA-74752)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Transferrin endocytosis and recycling
(R-HSA-917977)
Transport of small molecules
(R-HSA-382551)
Apical plasma membrane
(GO:0016324)
Atpase binding
(GO:0051117)
Clathrin-coated vesicle membrane
(GO:0030665)
Cytosol
(GO:0005829)
Endosome
(GO:0005768)
Extracellular exosome
(GO:0070062)
Lysosomal membrane
(GO:0005765)
Microvillus
(GO:0005902)
Protein binding
(GO:0005515)
Proton-transporting atpase activity, rotational mechanism
(GO:0046961)
Proton-transporting two-sector atpase complex
(GO:0016469)
Proton transmembrane transport
(GO:1902600)
Regulation of macroautophagy
(GO:0016241)
Synaptic vesicle lumen acidification
(GO:0097401)
Synaptic vesicle membrane
(GO:0030672)
Vacuolar proton-transporting v-type atpase, v1 domain
(GO:0000221)

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

placental villous trophoblast CL2000060

CSI 41.02

rCSI 63.39%

PRS 40.64
pancreatic D cell CL0000173

CSI 36.44

rCSI 35.84%

PRS 44.79
pancreatic A cell CL0000171

CSI 31.22

rCSI 32.71%

PRS 45.16
type B pancreatic cell CL0000169

CSI 21.62

rCSI 47.86%

PRS 40
pancreatic ductal cell CL0002079

CSI 15.82

rCSI 30.76%

PRS 44.5
retina horizontal cell CL0000745

CSI 15.21

rCSI 23.19%

PRS 39.53
pancreatic PP cell CL0002275

CSI 14.41

rCSI 57.35%

PRS 57.93
epithelial cell of lower respiratory tract CL0002632

CSI 12.92

rCSI 10.02%

PRS 43.01
syncytiotrophoblast cell CL0000525

CSI 12.51

rCSI 36.02%

PRS 60.24
epithelial cell of lung CL0000082

CSI 12.46

rCSI 10.33%

PRS 41.14
melanocyte CL0000148

CSI 11.98

rCSI 8.87%

PRS 36.81
renal alpha-intercalated cell CL0005011

CSI 11.76

rCSI 15.73%

PRS 50.86
kidney epithelial cell CL0002518

CSI 11.67

rCSI 22.27%

PRS 65.8
Hofbauer cell CL3000001

CSI 10.23

rCSI 19.32%

PRS 52.52
muscle cell CL0000187

CSI 9.97

rCSI 20.48%

PRS 64.92
microcirculation associated smooth muscle cell CL0008035

CSI 9.7

rCSI 28.07%

PRS 45.22
kidney loop of Henle thin descending limb epithelial cell CL1001111

CSI 9.27

rCSI 13.14%

PRS 39.87
extravillous trophoblast CL0008036

CSI 9.06

rCSI 11.21%

PRS 38.7
transit amplifying cell CL0009010

CSI 8.75

rCSI 13.38%

PRS 58.91
retinal ganglion cell CL0000740

CSI 7.87

rCSI 17.38%

PRS 31.81
CD1c-positive myeloid dendritic cell CL0002399

CSI 7.1

rCSI 8.57%

PRS 50.1
pancreatic stellate cell CL0002410

CSI 7.03

rCSI 40.89%

PRS 53.48
amacrine cell CL0000561

CSI 6.83

rCSI 19.79%

PRS 34.76
kidney loop of Henle thin ascending limb epithelial cell CL1001107

CSI 6.72

rCSI 17.38%

PRS 39.06
regular ventricular cardiac myocyte CL0002131

CSI 6.43

rCSI 40.13%

PRS 35.66
mesenchymal cell CL0008019

CSI 6.18

rCSI 15.71%

PRS 39.01
effector CD4-positive, alpha-beta T cell CL0001044

CSI 6.1

rCSI 17.49%

PRS 59.9
perivascular cell CL4033054

CSI 5.94

rCSI 8.12%

PRS 47.3
CD4-positive, alpha-beta cytotoxic T cell CL0000934

CSI 5.83

rCSI 8.01%

PRS 63.34
secretory cell CL0000151

CSI 5.81

rCSI 6.07%

PRS 43.29
myeloid dendritic cell CL0000782

CSI 5.57

rCSI 8.07%

PRS 58.61
colonocyte CL1000347

CSI 5.35

rCSI 7.68%

PRS 49.95
elicited macrophage CL0000861

CSI 5.1

rCSI 4.68%

PRS 49.79
podocyte CL0000653

CSI 5.1

rCSI 22.65%

PRS 41.32
mononuclear phagocyte CL0000113

CSI 4.74

rCSI 10.44%

PRS 46.51
ciliated epithelial cell CL0000067

CSI 4.6

rCSI 4.04%

PRS 32.46
glutamatergic neuron CL0000679

CSI 4.43

rCSI 9.1%

PRS 37.77
pulmonary ionocyte CL0017000

CSI 4.42

rCSI 5.38%

PRS 50.15
activated CD8-positive, alpha-beta T cell CL0000906

CSI 4.36

rCSI 4.29%

PRS 70.27
cerebellar granule cell CL0001031

CSI 4.35

rCSI 6.4%

PRS 39.14
hematopoietic multipotent progenitor cell CL0000837

CSI 4.31

rCSI 10.37%

PRS 60.37
M cell of gut CL0000682

CSI 4.18

rCSI 4.44%

PRS 57.64
lung macrophage CL1001603

CSI 4.15

rCSI 9.27%

PRS 48.87
pulmonary alveolar type 2 cell CL0002063

CSI 4.15

rCSI 6.43%

PRS 52.7
ciliated cell CL0000064

CSI 4.13

rCSI 6.69%

PRS 41.28
CD14-positive, CD16-positive monocyte CL0002397

CSI 4.12

rCSI 5.4%

PRS 55.57
non-classical monocyte CL0000875

CSI 4.11

rCSI 6.59%

PRS 71.33
mucus secreting cell CL0000319

CSI 4.03

rCSI 6.41%

PRS 52.83
cerebral cortex neuron CL0010012

CSI 3.89

rCSI 15.85%

PRS 40.49
double negative thymocyte CL0002489

CSI 3.88

rCSI 2.7%

PRS 50.99
alveolar type 1 fibroblast cell CL4028004

CSI 3.84

rCSI 4.21%

PRS 46.49
peripheral nervous system neuron CL2000032

CSI 3.83

rCSI 5.21%

PRS 36.54
renal interstitial pericyte CL1001318

CSI 3.82

rCSI 10.53%

PRS 39.75
glioblast CL0000030

CSI 3.75

rCSI 5.98%

PRS 36.94
CD4-positive, alpha-beta thymocyte CL0000810

CSI 3.71

rCSI 2.97%

PRS 64
exhausted T cell CL0011025

CSI 3.64

rCSI 61.66%

PRS 75.43
effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062

CSI 3.63

rCSI 18.24%

PRS 53.4
corneal epithelial cell CL0000575

CSI 3.62

rCSI 10.36%

PRS 59.79
IgG plasma cell CL0000985

CSI 3.6

rCSI 4.32%

PRS 61.84
myofibroblast cell CL0000186

CSI 3.39

rCSI 4.69%

PRS 47.77
respiratory basal cell CL0002633

CSI 3.37

rCSI 3.49%

PRS 48.35
erythroid progenitor cell CL0000038

CSI 3.35

rCSI 19.18%

PRS 53.41
astrocyte of the cerebral cortex CL0002605

CSI 3.17

rCSI 7.1%

PRS 28.65
effector CD8-positive, alpha-beta T cell CL0001050

CSI 3.15

rCSI 2.39%

PRS 53.8
goblet cell CL0000160

CSI 3.14

rCSI 2.97%

PRS 43.61
squamous epithelial cell CL0000076

CSI 3.14

rCSI 7.45%

PRS 48.39
intestinal crypt stem cell of colon CL0009043

CSI 3.09

rCSI 23.22%

PRS 62.78
skin fibroblast CL0002620

CSI 3.05

rCSI 2.63%

PRS 51.44
interstitial cell of Cajal CL0002088

CSI 3.04

rCSI 3.87%

PRS 47.75
myoepithelial cell CL0000185

CSI 2.95

rCSI 7.47%

PRS 50.83
epithelial cell CL0000066

CSI 2.9

rCSI 4.46%

PRS 44.99
common myeloid progenitor CL0000049

CSI 2.88

rCSI 2.33%

PRS 43.18
glandular epithelial cell CL0000150

CSI 2.88

rCSI 7.58%

PRS 65.18
plasmablast CL0000980

CSI 2.8

rCSI 2.2%

PRS 49.01
platelet CL0000233

CSI 2.76

rCSI 11.43%

PRS 52.3
club cell CL0000158

CSI 2.74

rCSI 4.02%

PRS 42.37
granulocyte CL0000094

CSI 2.72

rCSI 4.16%

PRS 51.49
ionocyte CL0005006

CSI 2.7

rCSI 2.9%

PRS 40.59
pro-B cell CL0000826

CSI 2.65

rCSI 2.19%

PRS 43.6
cerebral cortex GABAergic interneuron CL0010011

CSI 2.64

rCSI 7.79%

PRS 46.69
unswitched memory B cell CL0000970

CSI 2.63

rCSI 2.22%

PRS 59.87
enteroendocrine cell CL0000164

CSI 2.61

rCSI 3.57%

PRS 45.14
plasmacytoid dendritic cell, human CL0001058

CSI 2.6

rCSI 1.82%

PRS 44.3
tracheobronchial smooth muscle cell CL0019019

CSI 2.6

rCSI 4.59%

PRS 51.23
early lymphoid progenitor CL0000936

CSI 2.6

rCSI 2.28%

PRS 47.55
precursor B cell CL0000817

CSI 2.54

rCSI 2.22%

PRS 52.32
acinar cell CL0000622

CSI 2.4

rCSI 3.51%

PRS 53.48
hematopoietic precursor cell CL0008001

CSI 2.39

rCSI 2.46%

PRS 60.18
vascular leptomeningeal cell CL4023051

CSI 2.39

rCSI 4.19%

PRS 35.53
pancreatic acinar cell CL0002064

CSI 2.35

rCSI 3.12%

PRS 47.14
inhibitory interneuron CL0000498

CSI 2.32

rCSI 5.36%

PRS 35.18
CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792

CSI 2.32

rCSI 2.28%

PRS 57.84
fibroblast of lung CL0002553

CSI 2.32

rCSI 2.16%

PRS 42.55
double-positive, alpha-beta thymocyte CL0000809

CSI 2.31

rCSI 2.35%

PRS 55.67
enterocyte CL0000584

CSI 2.3

rCSI 3.71%

PRS 51.46
radial glial cell CL0000681

CSI 2.29

rCSI 3.18%

PRS 42.22
Bergmann glial cell CL0000644

CSI 2.28

rCSI 3.12%

PRS 39.54
rod bipolar cell CL0000751

CSI 2.28

rCSI 4.09%

PRS 36.45
professional antigen presenting cell CL0000145

CSI 2.27

rCSI 7.81%

PRS 74.57
colon epithelial cell CL0011108

CSI 2.25

rCSI 2.36%

PRS 40.07

enteric neuron CL0007011

CSI 0.1

rCSI 1.4%

PRS 65.1%
pluripotent stem cell CL0002248

CSI 0.2

rCSI 4.5%

PRS 67.6%
epithelial cell of esophagus CL0002252

CSI 0.2

rCSI 2.2%

PRS 69.8%
direct pathway medium spiny neuron CL4023026

CSI 0.2

rCSI 5.8%

PRS 27.5%
bronchiolar smooth muscle cell CL4033017

CSI 0.3

rCSI 3.8%

PRS 68.0%
cytotoxic T cell CL0000910

CSI 0.3

rCSI 1.7%

PRS 54.9%
indirect pathway medium spiny neuron CL4023029

CSI 0.3

rCSI 7.6%

PRS 28.4%
vasa recta descending limb cell CL1001285

CSI 0.3

rCSI 2.7%

PRS 74.2%
endothelial cell of placenta CL0009092

CSI 0.4

rCSI 1.8%

PRS 54.2%
helper T cell CL0000912

CSI 0.4

rCSI 0.6%

PRS 51.7%
near-projecting glutamatergic cortical neuron CL4023012

CSI 0.4

rCSI 1.6%

PRS 28.9%
large pre-B-II cell CL0000957

CSI 0.4

rCSI 1.2%

PRS 57.4%
L4 intratelencephalic projecting glutamatergic neuron CL4030063

CSI 0.4

rCSI 1.0%

PRS 32.9%
P/D1 enteroendocrine cell CL0002268

CSI 0.5

rCSI 2.5%

PRS 65.2%
bronchial goblet cell CL1000312

CSI 0.5

rCSI 2.1%

PRS 64.2%
chandelier pvalb GABAergic cortical interneuron CL4023036

CSI 0.5

rCSI 1.7%

PRS 31.3%
tracheal goblet cell CL1000329

CSI 0.6

rCSI 1.3%

PRS 62.4%
mammary gland epithelial cell CL0002327

CSI 0.6

rCSI 2.2%

PRS 58.1%
enteroglial cell CL4040002

CSI 0.6

rCSI 3.2%

PRS 51.7%
kidney connecting tubule epithelial cell CL1000768

CSI 0.6

rCSI 1.6%

PRS 33.8%
primitive red blood cell CL0002355

CSI 0.6

rCSI 3.5%

PRS 57.6%
germinal center B cell CL0000844

CSI 0.7

rCSI 1.9%

PRS 65.7%
mature B cell CL0000785

CSI 0.7

rCSI 0.6%

PRS 51.7%
lymphoid lineage restricted progenitor cell CL0000838

CSI 0.7

rCSI 2.6%

PRS 63.1%
colon macrophage CL0009038

CSI 0.7

rCSI 3.2%

PRS 65.3%
retinal cone cell CL0000573

CSI 0.7

rCSI 1.1%

PRS 34.0%
retinal bipolar neuron CL0000748

CSI 0.7

rCSI 1.3%

PRS 33.1%
retinal blood vessel endothelial cell CL0002585

CSI 0.7

rCSI 1.2%

PRS 46.3%
granulocyte monocyte progenitor cell CL0000557

CSI 0.7

rCSI 0.6%

PRS 46.3%
paneth cell CL0000510

CSI 0.7

rCSI 1.1%

PRS 59.8%
stromal cell of ovary CL0002132

CSI 0.7

rCSI 2.0%

PRS 58.0%
deuterosomal cell CL4033044

CSI 0.8

rCSI 2.5%

PRS 52.4%
neural progenitor cell CL0011020

CSI 0.8

rCSI 3.4%

PRS 36.7%
L2/3 intratelencephalic projecting glutamatergic neuron CL4030059

CSI 0.8

rCSI 1.7%

PRS 33.6%
CD8-positive, alpha-beta cytotoxic T cell CL0000794

CSI 0.8

rCSI 0.9%

PRS 63.0%
class switched memory B cell CL0000972

CSI 0.8

rCSI 0.6%

PRS 61.1%
CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920

CSI 0.8

rCSI 1.6%

PRS 60.4%
CD14-positive, CD16-negative classical monocyte CL0002057

CSI 0.8

rCSI 5.0%

PRS 67.3%
intestinal tuft cell CL0019032

CSI 0.8

rCSI 1.3%

PRS 47.2%
enteroendocrine cell of small intestine CL0009006

CSI 0.8

rCSI 1.8%

PRS 57.1%
fraction A pre-pro B cell CL0002045

CSI 0.8

rCSI 1.0%

PRS 65.5%
endothelial cell of uterus CL0009095

CSI 0.8

rCSI 6.2%

PRS 68.9%
transit amplifying cell of colon CL0009011

CSI 0.9

rCSI 1.0%

PRS 46.3%
basophil CL0000767

CSI 0.9

rCSI 1.8%

PRS 64.0%
duct epithelial cell CL0000068

CSI 0.9

rCSI 1.3%

PRS 45.5%
tissue-resident macrophage CL0000864

CSI 0.9

rCSI 4.2%

PRS 61.9%
caudal ganglionic eminence derived cortical interneuron CL4023064

CSI 0.9

rCSI 1.7%

PRS 27.0%
intermediate monocyte CL0002393

CSI 1.0

rCSI 1.4%

PRS 44.5%
sncg GABAergic cortical interneuron CL4023015

CSI 1.0

rCSI 1.6%

PRS 30.0%
choroid plexus epithelial cell CL0000706

CSI 1.0

rCSI 1.7%

PRS 33.9%
common dendritic progenitor CL0001029

CSI 1.0

rCSI 1.3%

PRS 52.2%
luminal epithelial cell of mammary gland CL0002326

CSI 1.0

rCSI 1.9%

PRS 58.8%
lung secretory cell CL1000272

CSI 1.1

rCSI 2.6%

PRS 40.8%
type L enteroendocrine cell CL0002279

CSI 1.1

rCSI 2.0%

PRS 62.5%
megakaryocyte-erythroid progenitor cell CL0000050

CSI 1.1

rCSI 1.0%

PRS 39.4%
glycinergic amacrine cell CL4030028

CSI 1.1

rCSI 2.8%

PRS 42.7%
lamp5 GABAergic cortical interneuron CL4023011

CSI 1.1

rCSI 1.8%

PRS 28.0%
alternatively activated macrophage CL0000890

CSI 1.1

rCSI 1.4%

PRS 55.8%
megakaryocyte CL0000556

CSI 1.1

rCSI 4.8%

PRS 58.5%
progenitor cell CL0011026

CSI 1.1

rCSI 2.4%

PRS 47.3%
dendritic cell, human CL0001056

CSI 1.1

rCSI 1.8%

PRS 49.4%
renal intercalated cell CL0005010

CSI 1.2

rCSI 10.2%

PRS 88.6%
forebrain radial glial cell CL0013000

CSI 1.2

rCSI 3.7%

PRS 50.4%
renal principal cell CL0005009

CSI 1.2

rCSI 3.1%

PRS 48.0%
enterocyte of epithelium of large intestine CL0002071

CSI 1.2

rCSI 6.3%

PRS 57.5%
corticothalamic-projecting glutamatergic cortical neuron CL4023013

CSI 1.2

rCSI 7.1%

PRS 29.3%
respiratory hillock cell CL4030023

CSI 1.2

rCSI 2.2%

PRS 58.2%
retinal rod cell CL0000604

CSI 1.2

rCSI 2.2%

PRS 41.3%
hepatocyte CL0000182

CSI 1.2

rCSI 2.2%

PRS 41.2%
lung ciliated cell CL1000271

CSI 1.2

rCSI 1.4%

PRS 33.3%
foveolar cell of stomach CL0002179

CSI 1.2

rCSI 2.6%

PRS 57.5%
basal cell of epidermis CL0002187

CSI 1.2

rCSI 2.2%

PRS 26.6%
lung pericyte CL0009089

CSI 1.2

rCSI 3.3%

PRS 50.0%
L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041

CSI 1.3

rCSI 4.6%

PRS 26.9%
Cajal-Retzius cell CL0000695

CSI 1.3

rCSI 10.3%

PRS 59.4%
hematopoietic stem cell CL0000037

CSI 1.3

rCSI 0.9%

PRS 46.6%
VIP GABAergic cortical interneuron CL4023016

CSI 1.3

rCSI 1.6%

PRS 28.0%
endocrine cell CL0000163

CSI 1.3

rCSI 6.8%

PRS 78.3%
chondrocyte CL0000138

CSI 1.3

rCSI 2.1%

PRS 36.3%
enteric smooth muscle cell CL0002504

CSI 1.4

rCSI 1.9%

PRS 45.3%
adventitial cell CL0002503

CSI 1.4

rCSI 3.3%

PRS 53.4%
mature alpha-beta T cell CL0000791

CSI 1.4

rCSI 5.0%

PRS 61.8%
group 3 innate lymphoid cell CL0001071

CSI 1.4

rCSI 1.0%

PRS 45.9%
natural T-regulatory cell CL0000903

CSI 1.4

rCSI 2.6%

PRS 76.5%
Langerhans cell CL0000453

CSI 1.4

rCSI 2.1%

PRS 59.9%
L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040

CSI 1.5

rCSI 3.6%

PRS 27.2%
OFF-bipolar cell CL0000750

CSI 1.5

rCSI 2.1%

PRS 52.8%
conjunctival epithelial cell CL1000432

CSI 1.5

rCSI 2.3%

PRS 43.2%
retinal pigment epithelial cell CL0002586

CSI 1.5

rCSI 3.0%

PRS 42.3%
respiratory suprabasal cell CL4033048

CSI 1.5

rCSI 2.0%

PRS 47.3%
cardiac muscle cell CL0000746

CSI 1.5

rCSI 2.2%

PRS 34.6%
thymocyte CL0000893

CSI 1.6

rCSI 5.6%

PRS 78.9%
cardiac endothelial cell CL0010008

CSI 1.6

rCSI 6.4%

PRS 41.4%
promyelocyte CL0000836

CSI 1.7

rCSI 2.4%

PRS 52.6%
lung neuroendocrine cell CL1000223

CSI 1.7

rCSI 2.4%

PRS 47.4%
intestinal epithelial cell CL0002563

CSI 1.7

rCSI 1.7%

PRS 42.2%
hepatic stellate cell CL0000632

CSI 1.7

rCSI 6.2%

PRS 36.3%
cerebral cortex endothelial cell CL1001602

CSI 1.7

rCSI 2.9%

PRS 34.0%
mature T cell CL0002419

CSI 1.7

rCSI 1.4%

PRS 59.3%
CD8-positive, alpha-beta thymocyte CL0000811

CSI 1.7

rCSI 2.7%

PRS 69.7%

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.

Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Context Genes (max 20):

Interaction Source:

Pathway Categories (for ONTOLOGY source):

Baseline Cell Type:

Baseline Cell Context(s): Comma-separated if multiple.

Target Cell Type:

Target Cell Context(s): Comma-separated if multiple.

Legend:

Query Gene
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
Node Size: Proportional to Target Cell CSI magnitude
STRING PPI Edge
Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

Description
Proteins

## Summary [ATP6V1E1](/details-gene/529) encodes subunit E1 of the vacuolar-type H+-ATPase (V-ATPase), a multi-subunit enzyme complex essential for acidifying various intracellular organelles. This proton pump plays a fundamental role in processes such as protein degradation in lysosomes, receptor-mediated endocytosis, and neurotransmitter loading into synaptic vesicles. The expression profile of [ATP6V1E1](/details-gene/529) indicates its high significance in cells with specialized secretory or transport functions. **Overall**, it is a top marker in [placental villous trophoblast](/details-cell/CL2000060), as well as pancreatic endocrine cells including [pancreatic D cell](/details-cell/CL0000173), [pancreatic A cell](/details-cell/CL0000171), and [type B pancreatic cell](/details-cell/CL0000169). Clinically, mutations in [ATP6V1E1](/details-gene/529) are associated with autosomal-recessive cutis laxa ([108746](https://omim.org/entry/108746)), a disorder of connective tissue ([Link](https://doi.org/10.1016/j.ajhg.2016.12.010)). ## Cellular Roles and Expression Landscape The expression pattern of [ATP6V1E1](/details-gene/529) underscores its critical role in maintaining pH homeostasis in highly active cellular compartments. Its significance is most pronounced in several functionally distinct cell populations. A primary role is suggested in endocrine and exocrine secretion, evidenced by its high Cell Significance Index (CSI) across multiple pancreatic cell types, including [pancreatic D cell](/details-cell/CL0000173) (CSI: 36.44), [pancreatic A cell](/details-cell/CL0000171) (CSI: 31.22), [type B pancreatic cell](/details-cell/CL0000169) (CSI: 21.62), and [pancreatic ductal cell](/details-cell/CL0002079) (CSI: 15.82). This is consistent with the need for V-ATPase activity in acidifying secretory granules for prohormone processing and maturation. Furthermore, [ATP6V1E1](/details-gene/529) appears crucial for placental function, showing the highest overall significance in [placental villous trophoblast](/details-cell/CL2000060) (CSI: 41.02) and high significance in [syncytiotrophoblast cell](/details-cell/CL0000525) (CSI: 12.51) and placental macrophages known as [Hofbauer cell](/details-cell/CL3000001)s (CSI: 10.23). This suggests a role in nutrient transport, endosomal trafficking, and immune function at the maternal-fetal interface. The gene is also a significant marker in specialized epithelial cells involved in ion and fluid transport, such as [renal alpha-intercalated cell](/details-cell/CL0005011) (CSI: 11.76) and [epithelial cell of lung](/details-cell/CL0000082) (CSI: 12.46), consistent with previous findings on V-ATPase distribution in the kidney ([Link](https://pubmed.ncbi.nlm.nih.gov/1533641/)). Finally, its notable expression in [melanocyte](/details-cell/CL0000148) (CSI: 11.98) points to a specific role in melanosome biogenesis and acidification, a process regulated by the MITF-M transcription factor. ## Pathways and Molecular Function Functionally, [ATP6V1E1](/details-gene/529) is an integral component of the V-ATPase complex, directly participating in [proton transmembrane transport](/details-cell/GO:1902600) via [proton-transporting atpase activity, rotational mechanism](/details-cell/GO:0046961). Its localization to numerous organelle membranes, including the [lysosomal membrane](/details-cell/GO:0005765), [endosome](/details-cell/GO:0005768), and [synaptic vesicle membrane](/details-cell/GO:0030672), is critical for a wide range of cellular processes. The gene's involvement in broader biological pathways reflects the downstream consequences of V-ATPase activity. It is implicated in the [Innate immune system](/details-cell/R-HSA-168249), likely through its role in acidifying phagosomes to facilitate pathogen degradation, as seen in the [ROS and RNS production in phagocytes](/details-cell/R-HSA-1222556) pathway. Its function is also central to nutrient uptake and signaling, as highlighted by its participation in [Transferrin endocytosis and recycling](/details-cell/R-HSA-917977) and the regulation of mTORC1 via the [Amino acids regulate mtorc1](/details-cell/R-HSA-9639288) pathway, which senses amino acid levels at the lysosomal surface. Moreover, its role in developmental biology is underscored by its involvement in [MITF-M-regulated melanocyte development](/details-cell/R-HSA-9730414), which is consistent with its high expression in [melanocyte](/details-cell/CL0000148)s and the requirement of V-ATPase for melanosome maturation. The link between V-ATPase and autophagy is also evident from its annotation in the [Regulation of macroautophagy](/details-cell/GO:0016241) process, where lysosomal acidification is the terminal step for autophagosome degradation. ## Research Directions The ubiquitous yet contextually critical role of [ATP6V1E1](/details-gene/529) provides several avenues for future investigation. Its association with autosomal-recessive cutis laxa ([Link](https://doi.org/10.1016/j.ajhg.2016.12.010)) highlights how systemic disruption of V-ATPase function can manifest as a connective tissue disorder, likely through impaired secretion and processing of extracellular matrix components. Based on the available data, several testable hypotheses can be proposed: 1. **Hypothesis 1:** Given its high significance in pancreatic endocrine cells ([pancreatic D cell](/details-cell/CL0000173), [A cell](/details-cell/CL0000171), [B cell](/details-cell/CL0000169)), dysregulation of [ATP6V1E1](/details-gene/529) impairs the acidification of secretory granules, leading to improper processing of prohormones (e.g., proinsulin, proglucagon) and contributing to metabolic dysfunction or diabetes. 2. **Hypothesis 2:** The prominent expression of [ATP6V1E1](/details-gene/529) in [placental villous trophoblast](/details-cell/CL2000060) is essential for receptor-mediated endocytosis and transcytosis of maternal nutrients, particularly iron via transferrin. Reduced [ATP6V1E1](/details-gene/529) function could therefore be a contributing factor to idiopathic intrauterine growth restriction (IUGR). **Experimental Approach for Hypothesis 1:** To investigate the role of [ATP6V1E1](/details-gene/529) in hormone processing, one could utilize CRISPR-Cas9 to knock out the gene in a human pancreatic beta-cell line (e.g., EndoC-βH1). The impact on insulin biosynthesis and secretion could be assessed by measuring the ratio of proinsulin to mature insulin using western blotting or specific ELISAs under both basal and glucose-stimulated conditions. Furthermore, transmission electron microscopy could be employed to examine the morphology and integrity of insulin-containing dense-core vesicles in knockout versus control cells. **Therapeutic Potential:** As [ATP6V1E1](/details-gene/529) is a subunit of a fundamental enzyme complex, it presents a challenging therapeutic target for inhibition due to the high likelihood of systemic toxicity. However, for loss-of-function diseases like cutis laxa, the therapeutic goal would be **activation** or restoration of function. Strategies could include gene replacement therapy to deliver a functional copy of the gene to affected tissues or the development of pharmacological chaperones designed to stabilize the mutant ATP6V1E1 protein, promoting its correct folding and incorporation into the V-ATPase complex. Such approaches would require careful consideration of cell-type specific delivery to mitigate off-target effects.

Disclaimer: This in-silico analysis is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

V-type proton ATPase subunit E 1

Genular Protein ID: 3353807900

Symbol: VATE1_HUMAN

Name: V-type proton ATPase subunit E 1

UniProtKB Accession Codes:

P36543 A8MUE4 A8MUN4

Database IDs:

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

	Overall overall
	Acute kidney failure MONDO0002492
	Adrenal gland UBERON0002369
	Alzheimer disease MONDO0004975
	Amyotrophic lateral sclerosis MONDO0004976
	Ascending colon UBERON0001156
	Basal cell carcinoma MONDO0020804
	Bipolar I disorder MONDO0001866
	Blood UBERON0000178
	\|— Blood COVID-19 UBERON0000178_MONDO0100096
	\|— Blood Cytomegalovirus infection UBERON0000178_MONDO0005132
	\|— Blood Healthy UBERON0000178_PATO0000461
	Body of stomach UBERON0001161
	Bone marrow UBERON0002371
	Brain UBERON0000955
	\|— Brain Healthy UBERON0000955_PATO0000461
	Breast UBERON0000310
	\|— Breast cancer MONDO0007254
	Bronchus UBERON0002185
	Caudate lobe of liver UBERON0001117
	Cerebellum UBERON0002037
	\|— Cerebellum Healthy UBERON0002037_PATO0000461
	Cerebral cortex UBERON0000956
	\|— Cerebral cortex Healthy UBERON0000956_PATO0000461
	Choroid plexus UBERON0001886
	Colon UBERON0001155
	\|— Colon Healthy UBERON0001155_PATO0000461
	Colorectal cancer MONDO0005575
	Cortex of kidney UBERON0001225
	\|— Cortex of kidney Healthy UBERON0001225_PATO0000461
	COVID-19 MONDO0100096
	Crohn disease MONDO0005011
	Cytomegalovirus infection MONDO0005132
	Dementia MONDO0001627
	Dental pulp UBERON0001754
	Dorsolateral prefrontal cortex UBERON0009834
	\|— Dorsolateral prefrontal cortex Bipolar I disorder UBERON0009834_MONDO0001866
	\|— Dorsolateral prefrontal cortex Dementia UBERON0009834_MONDO0001627
	\|— Dorsolateral prefrontal cortex Healthy UBERON0009834_PATO0000461
	\|— Dorsolateral prefrontal cortex Schizophrenia UBERON0009834_MONDO0005090
	\|— Dorsolateral prefrontal cortex Vascular dementia UBERON0009834_MONDO0004648
	Duodenum UBERON0002114
	\|— Duodenum Healthy UBERON0002114_PATO0000461
	Fovea centralis UBERON0001786
	\|— Fovea centralis Healthy UBERON0001786_PATO0000461
	Frontal cortex UBERON0001870
	Glioblastoma MONDO0018177
	Healthy PATO0000461
	Heart left ventricle UBERON0002084
	\|— Heart left ventricle Healthy UBERON0002084_PATO0000461
	Heart right ventricle UBERON0002080
	\|— Heart right ventricle Healthy UBERON0002080_PATO0000461
	Hippocampal formation UBERON0002421
	\|— Hippocampal formation Healthy UBERON0002421_PATO0000461
	Hypothalamus UBERON0001898
	\|— Hypothalamus Healthy UBERON0001898_PATO0000461
	Ileum UBERON0002116
	\|— Ileum Healthy UBERON0002116_PATO0000461
	\|— Ileum lamina propria UBERON8600035
	Interventricular septum UBERON0002094
	Islet of Langerhans UBERON0000006
	Isolated focal cortical dysplasia type II MONDO0011818
	Kidney UBERON0002113
	\|— Kidney Healthy UBERON0002113_PATO0000461
	Lamina propria of small intestine UBERON0001238
	Liver UBERON0002107
	\|— Liver Healthy UBERON0002107_PATO0000461
	Lung UBERON0002048
	\|— Lung Healthy UBERON0002048_PATO0000461
	\|— Lung Renal cell carcinoma UBERON0002048_MONDO0005086
	\|— Lung adenocarcinoma MONDO0005061
	Lymph node UBERON0000029
	\|— Lymph node Metastatic melanoma UBERON0000029_MONDO0005191
	Malignant ovarian serous tumor MONDO0024885
	Medial orbital frontal cortex UBERON0022352
	Metastatic melanoma MONDO0005191
	Midbrain UBERON0001891
	\|— Midbrain Healthy UBERON0001891_PATO0000461
	Nasopharynx UBERON0001728
	Neuroblastoma MONDO0005072
	Occipital cortex UBERON0016540
	Ovary UBERON0000992
	Parkinson disease MONDO0005180
	Peripheral region of retina UBERON0013682
	\|— Peripheral region of retina Healthy UBERON0013682_PATO0000461
	Placenta UBERON0001987
	Pleural effusion UBERON0000175
	Pons UBERON0000988
	\|— Pons Healthy UBERON0000988_PATO0000461
	Prefrontal cortex UBERON0000451
	Primary motor cortex UBERON0001384
	Renal cell carcinoma MONDO0005086
	Renal medulla UBERON0000362
	\|— Renal medulla Healthy UBERON0000362_PATO0000461
	Respiratory airway UBERON0001005
	\|— Respiratory airway COVID-19 UBERON0001005_MONDO0100096
	Retina UBERON0000966
	\|— Retina Healthy UBERON0000966_PATO0000461
	Right atrium auricular region UBERON0006631
	Schizophrenia MONDO0005090
	Sigmoid colon UBERON0001159
	Skin of body UBERON0002097
	\|— Skin of body Healthy UBERON0002097_PATO0000461
	Small cell lung carcinoma MONDO0008433
	Spleen UBERON0002106
	\|— Spleen Healthy UBERON0002106_PATO0000461
	Substantia nigra pars compacta UBERON0001965
	Telencephalon UBERON0001893
	\|— Telencephalon Healthy UBERON0001893_PATO0000461
	Thalamic complex UBERON0010225
	\|— Thalamic complex Healthy UBERON0010225_PATO0000461
	UBERON0005290 UBERON0005290
	\|— UBERON0005290 Healthy UBERON0005290_PATO0000461
	UBERON8440012 UBERON8440012
	\|— UBERON8440012 Healthy UBERON8440012_PATO0000461
	Upper lobe of left lung UBERON0008952
	Vascular dementia MONDO0004648

Details for: ATP6V1E1

Cell Significance Landscape

Associated with

Significant Cells

Network Configuration

Legend:

Other Information

Immunologic evidence that vacuolar H+ ATPases with heterogeneous forms of Mr = 31,000 subunit have different membrane distributions in mammalian kidney. PubMed ID: 1533641

The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22. PubMed ID: 8004105

Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. PubMed ID: 8250920

A genome annotation-driven approach to cloning the human ORFeome. PubMed ID: 15461802

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence of human chromosome 22. PubMed ID: 10591208

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Interaction between aldolase and vacuolar H+-ATPase: evidence for direct coupling of glycolysis to the ATP-hydrolyzing proton pump. PubMed ID: 11399750

A human gene, ATP6E1, encoding a testis-specific isoform of H(+)-ATPase subunit E. PubMed ID: 12036578

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

Initial characterization of the human central proteome. PubMed ID: 21269460

Rab11b and its effector Rip11 regulate the acidosis-induced traffic of V-ATPase in salivary ducts. PubMed ID: 20717956

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa. PubMed ID: 28065471

H+-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney. PubMed ID: 29993276

Structure and Roles of V-type ATPases. PubMed ID: 32001091

Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly. PubMed ID: 33065002

The consensus coding sequences of human breast and colorectal cancers. PubMed ID: 16959974