InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ACO2

Summary

InnateDB Protein

IDBP-9205.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ACO2

Protein Name

aconitase 2, mitochondrial

Synonyms

ACONM; ICRD;

Species

Homo sapiens

Ensembl Protein

ENSP00000216254

InnateDB Gene

IDBG-9203 (ACO2)

Protein Structure

UniProt Annotation

Function

Catalyzes the isomerization of citrate to isocitrate via cis-aconitate. {ECO:0000250}.

Subcellular Localization

Mitochondrion {ECO:0000250}.

Disease Associations

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. {ECO:0000269PubMed:22405087}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	20 [view]
Protein-Protein	19 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003994	aconitate hydratase activity
GO:0005506	iron ion binding
GO:0005515	protein binding
GO:0051538	3 iron, 4 sulfur cluster binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

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:0008219	cell death
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005634	nucleus
GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix

Protein Structure and Domains

PDB ID

InterPro

IPR000573 Aconitase A/isopropylmalate dehydratase small subunit, swivel
IPR001030 Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha
IPR006248 Aconitase, mitochondrial-like
IPR015928 Aconitase/3-isopropylmalate dehydratase, swivel

PFAM

PF00694
PF00330

PRINTS

PR00415

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q99798