ATP5A ist ein Gen, das durch das Symbol ATP5F1A kodiert wird. Andere Namen sind: ATP synthase subunit alpha, mitochondrial; ATP synthase F1 subunit alpha; ATP5F1A1L2; ATPM. ATP5A hat eine Masse von 59.75kDa, eine Aminosäurelänge von 553, und ist an folgenden Krankheiten beteiligt: Combined oxidative phosphorylation deficiency 22; Mitochondrial complex V deficiency, nuclear type 4.
Wir bieten 11 antikörper gegen ATP5A, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus, Ratte und Schwein.
Gen- und Proteininformationen
UniProt Zusammenfassung
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity). Binds the bacterial siderophore enterobactin and can promote mitochondrial accumulation of enterobactin-derived iron ions (PubMed:30146159).
Entrez Zusammenfassung
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 different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16.
Gewebespezifität
Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord.
Rolle bei Krankheiten
Combined oxidative phosphorylation deficiency 22: A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.
Mitochondrial complex V deficiency, nuclear type 4: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.
Sequenzähnlichkeiten
Belongs to the ATPase alpha/beta chains family.
Posttranslationale Modifikation
The N-terminus is blocked.
Zellort
Mitochondrion. Mitochondrion inner membrane. Cell membrane.
Colocalizes with HRG on the cell surface of T-cells (PubMed:19285951).
