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ATP6V1E1
ATPase H+ transporting V1 subunit E1
The *ATP6V1E1* gene provides instructions for making a protein that is a critical component of vacuolar H+-ATPase (V-ATPase), an enzyme complex essential for maintaining cellular pH. The *ATP6V1E1* gene codes for the E1 subunit of the V1 sector of V-ATPase.
ATP6V1E1 is located on the long (q) arm of chromosome 22, at band 22q11.21. Arm ratio per GRCh38 - banding schematic.
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Overview
The *ATP6V1E1* gene, short for ATPase H+ transporting V1 subunit E1, contains the genetic blueprint for a protein involved in fundamental cellular processes. This gene is integral to the function of vacuolar H+-ATPase, often referred to as V-ATPase, a key enzyme complex found in the membranes of many cellular organelles. V-ATPases are crucial for acidifying these compartments, which is necessary for their proper function and for overall cellular homeostasis.
What the gene does
The protein produced from the *ATP6V1E1* gene is a component of the V1 domain within the V-ATPase complex. The V-ATPase is a sophisticated molecular motor that consumes ATP (adenosine triphosphate) to pump protons (H+) across membranes. This proton-pumping action acidifies intracellular compartments such as lysosomes, endosomes, and synaptic vesicles. The E1 subunit, encoded by *ATP6V1E1*, contributes to the rotational mechanism of the V-ATPase, which directly drives proton translocation. This acidification is essential for processes like protein degradation, neurotransmitter uptake, and receptor-mediated endocytosis, highlighting the widespread impact of V-ATPase activity on cellular physiology.
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Chromosome location
The *ATP6V1E1* gene is situated on chromosome 22, specifically at position 22q11.21. This chromosomal location indicates its physical address within the human genome. Genes at this position contribute to the genetic make-up and can be involved in various physiological processes when altered.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Variants within the *ATP6V1E1* gene can occur, altering the genetic instructions and potentially affecting the structure or function of the resulting E1 subunit protein. These genetic changes can range from single nucleotide differences to larger alterations. The impact of a specific variant depends on its location within the gene and how it affects the protein's role in the V-ATPase complex.
Sample of pathogenic variants
1 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.634C>T | p.Arg212Trp | Pathogenic/Likely pathogenic | ★★☆☆ | Autosomal recessive cutis laxa type 2C |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Genetic changes in the *ATP6V1E1* gene have been implicated in various conditions, reflecting the critical role of V-ATPase in cellular function. While no specific named conditions are detailed here, alterations affecting the protein's ability to regulate pH in cellular compartments can disrupt numerous biological pathways, potentially leading to diverse health effects.
No disease links recorded for this gene in our reference set.
UK clinical status
The *ATP6V1E1* gene is recognised within the NHS Genomic Medicine Service. It is listed on the Green list of the DDG2P (Deciphering Developmental Disorders) PanelApp, indicating that there is strong evidence for a gene-disease association in developmental disorders.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the primary function of the ATP6V1E1 gene?
The *ATP6V1E1* gene provides instructions for a component of vacuolar H+-ATPase (V-ATPase), an enzyme complex that actively pumps protons into cellular compartments. This action is crucial for maintaining the correct acidity (pH) within these compartments, which is essential for numerous cellular processes.
Where is the ATP6V1E1 gene located?
The *ATP6V1E1* gene is found on chromosome 22, specifically at the band position 22q11.21 in the human genome.
Are there any specific lifestyle recommendations for individuals with ATP6V1E1 gene variants?
Currently, there are no specific lifestyle recommendations directly associated with *ATP6V1E1* gene variants. General health guidelines and discussions with a healthcare professional are always advised.