Aliases for ACO1 Gene
External Ids for ACO1 Gene
Previous HGNC Symbols for ACO1 Gene
Previous GeneCards Identifiers for ACO1 Gene
The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]
GeneCards Summary for ACO1 Gene
ACO1 (Aconitase 1) is a Protein Coding gene. Diseases associated with ACO1 include Friedreich Ataxia and X-Linked Sideroblastic Anemia With Ataxia. Among its related pathways are Carbon metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include RNA binding and iron-responsive element binding. An important paralog of this gene is IREB2.
UniProtKB/Swiss-Prot for ACO1 Gene
Iron sensor. Binds a 4Fe-4S cluster and functions as aconitase when cellular iron levels are high. Functions as mRNA binding protein that regulates uptake, sequestration and utilization of iron when cellular iron levels are low. Binds to iron-responsive elements (IRES) in target mRNA species when iron levels are low. Binding of a 4Fe-4S cluster precludes RNA binding.
Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.