ATP6AP1L: A Potential Drug Target and Biomarker for Human Metabolic Disorders

Target Name: ATP6AP1L

NCBI ID: G92270

Other Name(s): ATPase H+ transporting accessory protein 1 like, transcript variant 1 | vacuolar proton pump subunit S1-like protein | ATP6AP1L variant 4 | ATPase H+ transporting accessory protein 1 like, transcript variant 4 | V-type proton ATPase subunit S1-like protein isoform 1 | V-type proton ATPase subunit S1-like protein | Vacuolar proton pump subunit S1-like protein | ATP6AP1L variant 1 | V-type proton ATPase subunit S1-like protein (isoform 1) | VAS1L_HUMAN | ATPase H+ transporting accessory protein 1 like (pseudogene) | ATPase, H+ transporting, lysosomal accessory protein 1-like

ATP6AP1L: A Potential Drug Target and Biomarker for Human Metabolic Disorders

Introduction

ATPase H+ transporting accessories (A-ATPases) are a family of transmembrane proteins that play a crucial role in regulating ion transport processes in various organisms, including humans. The A-ATPases are involved in a wide range of physiological processes, including muscle contractions, nerve impulse transmission, and cell signaling. Mammalian A-ATPases are also involved in the regulation of cellular homeostasis, including acid-base balance and pH regulation. The gene encoding the protein A-ATPase H+ transporting accessory protein 1 like (ATPase H+ transporting accessory protein 1 like, transcript variant 1) (ATP6AP1L) has been well-studied, and its functions in human metabolism are of great interest.

The ATP6AP1L gene

The ATP6AP1L gene is located on chromosome 12q24.1 and encodes a protein with 68 amino acid residues, including a N-terminus, a catalytic domain, and a C-terminus. The N-terminus of ATP6AP1L is responsible for the formation of a N -tail, which can interact with other proteins and contribute to protein stability. The catalytic domain of ATP6AP1L contains the protein's active site, where the A-ATPase H+ transporting mechanism is active. The C-terminus of ATP6AP1L contains a unique structural feature, known as a conserved helix-like region, which is involved in protein-protein interactions and may contribute to protein stability.

ATP6AP1L function

ATP6AP1L is a key protein involved in the regulation of acid-base balance and pH in various organisms, including humans. The primary function of ATP6AP1L is to regulate the activity of the A-ATPase H+ transporting mechanism. This mechanism is responsible for maintaining the physiological pH of the body by regulating the production and removal of H+ ions from the cytosol.

ATP6AP1L is a critical regulator of the A-ATPase H+ transporting mechanism in muscle cells, where it is involved in the regulation of muscle contractions and muscle relaxation. Muscle contractions are essential for maintaining posture, movement, and physical activity, and they require the regulation of ion transport processes, including the production and removal of H+ ions from the cytosol. The A-ATPase H+ transporting mechanism is critical for regulating the production and removal of H+ ions from the cytosol, which are involved in muscle contractions and muscle relaxation.

ATP6AP1L is also involved in the regulation of the pH of the body. The body's pH is critical for maintaining proper physiological functions, including the regulation of physiological processes, including cell signaling and neurotransmission. The A-ATPase H+ transporting mechanism is involved in the regulation of the pH of the body by controlling the production and removal of H+ ions from the cytosol.

ATP6AP1L dysfunction

Mammalian A-ATPases are involved in a wide range of physiological processes, including muscles, nerve impulse transmission, and cell signaling. The Mammalian A-ATPases are also involved in the regulation of cellular homeostasis, including acid-base balance and pH regulation. Dysfunction of A-ATPases can lead to a variety of disorders, including muscle weakness, muscle contractions, and nerve dysfunction.

Mutations in the ATP6AP1L gene have been linked to a variety of human disorders, including achalasia, a condition characterized by the loss of the ability to swallow, and college student syndrome

Protein Name: ATPase H+ Transporting Accessory Protein 1 Like (pseudogene)

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