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
AK314845 - Homo sapiens cDNA, FLJ95737, highly similar to Homo sapiens aconitase 2, mitochondrial (ACO2), nuclear geneencoding mitochondrial protein, mRNA. AK293562 - Homo sapiens cDNA FLJ60429 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor (EC 4.2.1.3). AK297213 - Homo sapiens cDNA FLJ52327 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor (EC 4.2.1.3). AK301321 - Homo sapiens cDNA FLJ50886 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor(EC 4.2.1.3). AK302691 - Homo sapiens cDNA FLJ51705 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor (EC 4.2.1.3). AK296260 - Homo sapiens cDNA FLJ54329 complete cds, highly similar to Aconitate hydratase, mitochondrial precursor(EC 4.2.1.3). BC026196 - Homo sapiens aconitase 2, mitochondrial, mRNA (cDNA clone MGC:33908 IMAGE:5264179), complete cds. GQ472196 - Homo sapiens epididymis secretory sperm binding protein Li 284 (HEL-S-284) mRNA, complete cds. GQ891499 - Homo sapiens clone HEL-S-220 epididymis secretory sperm binding protein mRNA, complete cds. BC014092 - Homo sapiens aconitase 2, mitochondrial, mRNA (cDNA clone MGC:20605 IMAGE:4328775), complete cds. U80040 - Human nuclear aconitase mRNA, encoding mitochondrial protein, complete cds. CR456365 - Homo sapiens ACO2 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.ACO2). AB385022 - Synthetic construct DNA, clone: pF1KB5053, Homo sapiens ACO2 gene for aconitate hydratase, complete cds, without stop codon, in Flexi system. CU013220 - Homo sapiens ACO2, mRNA (cDNA clone IMAGE:100000000), complete cds, without stop codon, in Gateway system. DQ893674 - Synthetic construct clone IMAGE:100006304; FLH188127.01X; RZPDo839G09150D aconitase 2, mitochondrial (ACO2) gene, encodes complete protein; nuclear gene for mitochondrial product. DQ895836 - Synthetic construct Homo sapiens clone IMAGE:100010296; FLH188123.01L; RZPDo839G09149D aconitase 2, mitochondrial (ACO2) gene, encodes complete protein; nuclear gene for mitochondrial product. CR536568 - Homo sapiens full open reading frame cDNA clone RZPDo834C0922D for gene ACO2, aconitase 2, mitochondrial; complete cds, incl. stopcodon. CU012932 - Homo sapiens ACO2, mRNA (cDNA clone IMAGE:100000096), complete cds, with stop codon, in Gateway system. DQ583545 - Homo sapiens piRNA piR-50657, complete sequence. DQ576966 - Homo sapiens piRNA piR-45078, complete sequence. JD023290 - Sequence 4314 from Patent EP1572962. JD036247 - Sequence 17271 from Patent EP1572962. DQ572644 - Homo sapiens piRNA piR-40756, complete sequence.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY66-398 - TCA cycle PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle
Reactome (by CSHL, EBI, and GO)
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
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
