ATP5F1A
Description
The ATP5F1A (ATP synthase F1 subunit alpha) is a protein-coding gene located on chromosome 18.
ATP synthase F1 subunit alpha, mitochondrial is an enzyme that in humans is encoded by the ATP5F1A gene. This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the same protein have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. The ATP5F1A gene, located on the q arm of chromosome 18 in position 21, is made up of 13 exons and is 20,090 base pairs in length.
Mitochondrial ATP synthase, also known as F(1)F(0) ATP synthase or Complex V, is responsible for ATP production from ADP using a proton gradient across the mitochondrial membrane. This gradient is generated by electron transport complexes within the respiratory chain. The enzyme has two main structural domains: F(1), which contains the catalytic core outside of the membrane, and F(0), which houses the proton channel embedded in the membrane. These domains are connected by a central stalk and a peripheral stalk. ATP synthesis within the catalytic domain of F(1) is driven by a rotary mechanism of the central stalk subunits, which is coupled to proton translocation. Subunits alpha and beta form the catalytic core of F(1), and rotation of the central stalk against the surrounding alpha(3)beta(3) subunits results in ATP hydrolysis at three separate catalytic sites on the beta subunits. Subunit alpha does not possess the high-affinity ATP-binding sites. It is known to bind the bacterial siderophore enterobactin and facilitate the accumulation of enterobactin-derived iron ions within mitochondria.
ATP5F1A is also known as ATP5A, ATP5A1, ATP5AL2, ATPM, COXPD22, HEL-S-123m, MC5DN4, MC5DN4A, MC5DN4B, MOM2, OMR, ORM, hATP1.
Associated Diseases
- Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
- Combined oxidative phosphorylation deficiency 22
- Isolated ATP synthase deficiency
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
