Description: Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_001098): The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr22:41,865,129-41,924,993 Size: 59,865 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr22:41,865,151-41,924,617 Size: 59,467 Coding Exon Count: 18
ID:ACON_HUMAN DESCRIPTION: RecName: Full=Aconitate hydratase, mitochondrial; Short=Aconitase; EC=4.2.1.3; AltName: Full=Citrate hydro-lyase; Flags: Precursor; FUNCTION: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity). CATALYTIC ACTIVITY: Citrate = isocitrate. COFACTOR: Binds 1 4Fe-4S cluster per subunit. Binding of a 3Fe-4S cluster leads to an inactive enzyme (By similarity). PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2. SUBUNIT: Monomer (By similarity). SUBCELLULAR LOCATION: Mitochondrion (By similarity). DISEASE: Defects in ACO2 are the cause of infantile cerebellar- retinal degeneration (ICRD) [MIM:614559]. A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. SIMILARITY: Belongs to the aconitase/IPM isomerase family. WEB RESOURCE: Name=Wikipedia; Note=Aconitase entry; URL="http://en.wikipedia.org/wiki/Aconitase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99798
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001889 liver development GO:0006091 generation of precursor metabolites and energy GO:0006099 tricarboxylic acid cycle GO:0006101 citrate metabolic process GO:0006102 isocitrate metabolic process GO:0008152 metabolic process GO:0035900 response to isolation stress
Protein Q99798 (Reactome details) participates in the following event(s):
R-HSA-70971 citrate <=> isocitrate R-HSA-450975 isocitrate <=> citrate R-HSA-1268022 TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space R-HSA-71403 Citric acid cycle (TCA cycle) R-HSA-1268020 Mitochondrial protein import R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle R-HSA-392499 Metabolism of proteins R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport R-HSA-1430728 Metabolism
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