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Aliases for ACO1 Gene

Aliases for ACO1 Gene

  • Aconitase 1, Soluble 2 3
  • IREB1 3 4 6
  • Iron-Responsive Element-Binding Protein 1 3 4
  • Ferritin Repressor Protein 3 4
  • Iron Regulatory Protein 1 3 4
  • Citrate Hydro-Lyase 3 4
  • EC 4.2.1.3 4 63
  • IRE-BP 1 3 4
  • IRP1 3 4
  • Iron-Responsive Element Binding Protein 1 3
  • Aconitate Hydratase, Cytoplasmic 3
  • Cytoplasmic Aconitate Hydratase 3
  • Epididymis Luminal Protein 60 3
  • Aconitate Hydratase 2
  • Cytoplasmic 2
  • Aconitase 4
  • EC 4.2.1 63
  • IREBP1 3
  • ACONS 3
  • HEL60 3
  • IREBP 3

External Ids for ACO1 Gene

Previous HGNC Symbols for ACO1 Gene

  • IREB1

Previous GeneCards Identifiers for ACO1 Gene

  • GC09P032696
  • GC09P032554

Summaries for ACO1 Gene

Entrez Gene Summary 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, Soluble) is a Protein Coding gene. Diseases associated with ACO1 include x-linked sideroblastic anemia with ataxia and hyperferritinemia-cataract syndrome. Among its related pathways are Carbon metabolism and 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACO1 Gene

Genomics for ACO1 Gene

Regulatory Elements for ACO1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACO1 Gene

Start:
32,384,603 bp from pter
End:
32,454,769 bp from pter
Size:
70,167 bases
Orientation:
Plus strand

Genomic View for ACO1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACO1 Gene

Proteins for ACO1 Gene

  • Protein details for ACO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21399-ACOC_HUMAN
    Recommended name:
    Cytoplasmic aconitate hydratase
    Protein Accession:
    P21399
    Secondary Accessions:
    • D3DRK7
    • Q14652
    • Q5VZA7

    Protein attributes for ACO1 Gene

    Size:
    889 amino acids
    Molecular mass:
    98399 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster per subunit.;
    Quaternary structure:
    • Interacts (when associated with the 4Fe-4S) with FBXL5. Interacts with frataxin(81-210).

    Three dimensional structures from OCA and Proteopedia for ACO1 Gene

neXtProt entry for ACO1 Gene

Proteomics data for ACO1 Gene at MOPED

Post-translational modifications for ACO1 Gene

  • Ubiquitination at Lys141, Lys639, Lys736, and Lys772
  • Modification sites at PhosphoSitePlus

Other Protein References for ACO1 Gene

Antibody Products

Domains for ACO1 Gene

Suggested Antigen Peptide Sequences for ACO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21399

UniProtKB/Swiss-Prot:

ACOC_HUMAN :
  • P21399
Family:
  • Belongs to the aconitase/IPM isomerase family.
genes like me logo Genes that share domains with ACO1: view

No data available for Gene Families for ACO1 Gene

Function for ACO1 Gene

Molecular function for ACO1 Gene

GENATLAS Biochemistry: bifunctional cytosolic aconitase,iron-responsive element binding protein
UniProtKB/Swiss-Prot CatalyticActivity: Citrate = isocitrate
UniProtKB/Swiss-Prot Function: 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.
UniProtKB/Swiss-Prot Function: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.

Enzyme Numbers (IUBMB) for ACO1 Gene

Gene Ontology (GO) - Molecular Function for ACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding NAS 1903202
GO:0003994 aconitate hydratase activity IDA 1946430
GO:0005515 protein binding IPI 19762596
GO:0030350 iron-responsive element binding IDA 8041788
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ACO1: view

Phenotypes for ACO1 Gene

genes like me logo Genes that share phenotypes with ACO1: view

Animal Models for ACO1 Gene

MGI Knock Outs for ACO1:

Animal Model Products

CRISPR Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ACO1 Gene

Localization for ACO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACO1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACO1 Gene COMPARTMENTS Subcellular localization image for ACO1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
cytosol 4
mitochondrion 4
peroxisome 2
plasma membrane 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 1738601
GO:0005739 mitochondrion IDA --
GO:0005783 endoplasmic reticulum IDA 16144863
GO:0005794 Golgi apparatus IDA 16144863
GO:0005829 cytosol IDA 16527810
genes like me logo Genes that share ontologies with ACO1: view

Pathways for ACO1 Gene

genes like me logo Genes that share pathways with ACO1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle IEA --
GO:0006101 citrate metabolic process IDA 16527810
GO:0006417 regulation of translation IEA --
GO:0006879 cellular iron ion homeostasis IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ACO1: view

Compounds for ACO1 Gene

(6) HMDB Compounds for ACO1 Gene

Compound Synonyms Cas Number PubMed IDs
cis-Aconitic acid
  • (1Z)-1-Propene-1,2,3-tricarboxylate
585-84-2
Citric acid
  • 2-Hydroxy-1,2,3-propanetricarboxylate
77-92-9
Iron
  • Armco iron
7439-89-6
Isocitric acid
  • 1-Hydroxy-1,2,3-propanetricarboxylate
320-77-4
Sulfide
  • Sulfide
18496-25-8

(38) Novoseek inferred chemical compound relationships for ACO1 Gene

Compound -log(P) Hits PubMed IDs
iron 87.7 279
iron-sulfur 86.4 38
cubane 71.2 4
cis-aconitate 67.2 1
5-aminolevulinic acid 63.3 4
genes like me logo Genes that share compounds with ACO1: view

Transcripts for ACO1 Gene

Unigene Clusters for ACO1 Gene

Aconitase 1, soluble:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACO1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACO1 Gene

No ASD Table

Relevant External Links for ACO1 Gene

GeneLoc Exon Structure for
ACO1
ECgene alternative splicing isoforms for
ACO1

Expression for ACO1 Gene

mRNA expression in normal human tissues for ACO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACO1 Gene

This gene is overexpressed in Liver (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ACO1 Gene

SOURCE GeneReport for Unigene cluster for ACO1 Gene Hs.567229

genes like me logo Genes that share expressions with ACO1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ACO1 Gene

Orthologs for ACO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACO1 35
  • 99.63 (n)
  • 99.89 (a)
ACO1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACO1 35
  • 90.63 (n)
  • 94.38 (a)
ACO1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACO1 35
  • 89.35 (n)
  • 93.25 (a)
ACO1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aco1 35
  • 86.95 (n)
  • 93.36 (a)
Aco1 16
Aco1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACO1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACO1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aco1 35
  • 87.33 (n)
  • 92.91 (a)
chicken
(Gallus gallus)
Aves ACO1 35
  • 78.64 (n)
  • 87.61 (a)
ACO1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACO1 36
  • 86 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ratireb-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aco1 35
  • 74.59 (n)
  • 85.47 (a)
Str.15741 35
zebrafish
(Danio rerio)
Actinopterygii aco1 35
  • 73.57 (n)
  • 82.34 (a)
aco1 36
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007258 35
  • 61.35 (n)
  • 68.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta Irp-1A 36
  • 67 (a)
ManyToMany
Irp-1B 35
  • 63.91 (n)
  • 68.89 (a)
Irp-1B 36
  • 67 (a)
ManyToMany
Irp-1A 37
  • 67 (a)
Irp-1B 37
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea aco-1 35
  • 61.21 (n)
  • 64.13 (a)
aco-1 36
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO2 36
  • 27 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3376 35
soybean
(Glycine max)
eudicotyledons Gma.4937 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ACO3 35
  • 59.27 (n)
  • 62.3 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.336 35
corn
(Zea mays)
Liliopsida Zm.16984 35
rice
(Oryza sativa)
Liliopsida Os.7192 35
Os03g0136900 35
  • 59.55 (n)
  • 61.29 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10193 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5028 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.544 36
  • 62 (a)
OneToMany
Species with no ortholog for ACO1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ACO1 Gene

ENSEMBL:
Gene Tree for ACO1 (if available)
TreeFam:
Gene Tree for ACO1 (if available)

Paralogs for ACO1 Gene

Paralogs for ACO1 Gene

Selected SIMAP similar genes for ACO1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ACO1: view

Variants for ACO1 Gene

Sequence variations from dbSNP and Humsavar for ACO1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs12985 -- 32,450,189(+) CTCCC(C/T)GGCTG utr-variant-3-prime
rs867469 -- 32,383,710(+) AAGAC(A/G)GGTAA upstream-variant-2KB
rs879450 -- 32,383,602(-) CTATC(A/G)TCTAG upstream-variant-2KB
rs882812 -- 32,384,827(+) GAGGT(A/G)CCCGA intron-variant
rs913762 -- 32,384,845(+) GCGGC(A/C)CGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACO1 Gene

Variant ID Type Subtype PubMed ID
nsv521047 CNV Loss 19592680
nsv893011 CNV Gain 21882294

Relevant External Links for ACO1 Gene

HapMap Linkage Disequilibrium report
ACO1
Human Gene Mutation Database (HGMD)
ACO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACO1 Gene

Disorders for ACO1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ACO1 Gene including...

Search for ACO1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ACO1 Gene

(13) Novoseek inferred disease relationships for ACO1 Gene

Disease -log(P) Hits PubMed IDs
iron overload 63.2 3
iron deficiency 58.7 9
hereditary hemochromatosis 50.3 4
friedreich ataxia 46.1 2
hemochromatosis 28.2 8

Relevant External Links for ACO1

Genetic Association Database (GAD)
ACO1
Human Genome Epidemiology (HuGE) Navigator
ACO1
genes like me logo Genes that share disorders with ACO1: view

No data available for UniProtKB/Swiss-Prot for ACO1 Gene

Publications for ACO1 Gene

  1. Cloning of the cDNA encoding an RNA regulatory protein -- the human iron-responsive element-binding protein. (PMID: 2172968) Rouault T.A. … Klausner R.D. (Proc. Natl. Acad. Sci. U.S.A. 1990) 2 3 4 23
  2. Homology between IRE-BP, a regulatory RNA-binding protein, aconitase, and isopropylmalate isomerase. (PMID: 1903202) Hentze M.W. … Argos P. (Nucleic Acids Res. 1991) 3 4 23
  3. Crystal structure of human iron regulatory protein 1 as cytosolic aconitase. (PMID: 16407072) Dupuy J. … Fontecilla-Camps J.C. (Structure 2006) 3 4 23
  4. Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin. (PMID: 20053667) Condo I. … Testi R. (Hum. Mol. Genet. 2010) 4 23
  5. Control of iron homeostasis by an iron-regulated ubiquitin ligase. (PMID: 19762596) Vashisht A.A. … Wohlschlegel J.A. (Science 2009) 3 4

Products for ACO1 Gene

Sources for ACO1 Gene

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