ATP6V1E1 | ENSG00000131100 | NCBI 529

Details for: ATP6V1E1

Gene ID: 529

Symbol: ATP6V1E1

Ensembl ID: ENSG00000131100

Description: ATPase H+ transporting V1 subunit E1

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)

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: placental villous trophoblast (CL2000060)
Fold Change: 1.05
Cell Significance Index: 1
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 1.03
Cell Significance Index: 1
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 1.02
Cell Significance Index: 1
Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 1.01
Cell Significance Index: 1
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 1.01
Cell Significance Index: 1
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: 1
Cell Significance Index: 1
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 1
Cell Significance Index: 1
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1
Cell Significance Index: 1
Cell Name: cell (CL0000000)
Fold Change: 1
Cell Significance Index: 1
Cell Name: epidermal cell (CL0000362)
Fold Change: 1
Cell Significance Index: 1
Cell Name: perivascular cell (CL4033054)
Fold Change: 1
Cell Significance Index: 1
Cell Name: epithelial cell of sweat gland (CL1000448)
Fold Change: 1
Cell Significance Index: 1
Cell Name: sebaceous gland cell (CL2000021)
Fold Change: 1
Cell Significance Index: 1
Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: 1
Cell Significance Index: 1
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 1
Cell Significance Index: 1
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 1
Cell Significance Index: 1
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: 1
Cell Significance Index: 1
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1
Cell Significance Index: 1
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1
Cell Significance Index: 1
Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: 1
Cell Significance Index: 1
Cell Name: Mueller cell (CL0000636)
Fold Change: 1
Cell Significance Index: 1
Cell Name: extravillous trophoblast (CL0008036)
Fold Change: 1
Cell Significance Index: 1
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 1
Cell Significance Index: 1
Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
Fold Change: 1
Cell Significance Index: 1
Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
Fold Change: 1
Cell Significance Index: 1
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 1
Cell Significance Index: 1
Cell Name: embryonic fibroblast (CL2000042)
Fold Change: 1
Cell Significance Index: 1
Cell Name: keratocyte (CL0002363)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: syncytiotrophoblast cell (CL0000525)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: Hofbauer cell (CL3000001)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: radial glial cell (CL0000681)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: endothelial cell of venule (CL1000414)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: columnar/cuboidal epithelial cell (CL0000075)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: supporting cell (CL0000630)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: OFF-bipolar cell (CL0000750)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: colon endothelial cell (CL1001572)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: mesodermal cell (CL0000222)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: glioblast (CL0000030)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: malignant cell (CL0001064)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: hepatic pit cell (CL2000054)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: Merkel cell (CL0000242)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: ON-bipolar cell (CL0000749)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: chondroblast (CL0000058)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: enterocyte (CL0000584)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: muscle fibroblast (CL1001609)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: intrahepatic cholangiocyte (CL0002538)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: pulmonary alveolar type 2 cell (CL0002063)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: fibroblast of breast (CL4006000)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: IgG-negative class switched memory B cell (CL0002117)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: stem cell (CL0000034)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: glomerular capillary endothelial cell (CL1001005)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: centroblast (CL0009112)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: granular cell of epidermis (CL0002189)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: neuron (CL0000540)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: germ cell (CL0000586)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: fibroblast (CL0000057)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: epithelial cell (CL0000066)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: elicited macrophage (CL0000861)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: endothelial tip cell (CL0000704)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: keratinocyte (CL0000312)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: skin fibroblast (CL0002620)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: mononuclear phagocyte (CL0000113)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: classical monocyte (CL0000860)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: melanocyte (CL0000148)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: thymocyte (CL0000893)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: secretory cell (CL0000151)
Fold Change: 0.99
Cell Significance Index: 1
Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
Fold Change: 0.99
Cell Significance Index: 1

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.

Other Information

Description

**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.

Disclaimer: This summary 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.

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.