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Aliases for ACO1 Gene

Aliases for ACO1 Gene

  • Aconitase 1 2 3 5
  • Iron-Responsive Element-Binding Protein 1 3 4
  • Ferritin Repressor Protein 3 4
  • Iron Regulatory Protein 1 3 4
  • Cytosplasmic Aconitase 2 3
  • Aconitase 1, Soluble 2 3
  • Citrate Hydro-Lyase 3 4
  • Soluble Aconitase 2 3
  • EC 4.2.1.3 4 63
  • IRE-BP 1 3 4
  • IREB1 3 4
  • IRP1 3 4
  • Iron-Responsive Element Binding Protein 1 3
  • Aconitate Hydratase, Cytoplasmic 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) is a Protein Coding gene. Diseases associated with ACO1 include friedreich ataxia and hyperferritinemia-cataract syndrome. Among its related pathways are Metabolism and Carbon 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

Promoters for ACO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ACO1 Gene

Chromosome:
9
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

Genes around ACO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Lys 141, Lys 639, Lys 736, and Lys 772
  • Modification sites at PhosphoSitePlus

Other Protein References for ACO1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACO1 (IREB1)

Domains & Families 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 :
  • Belongs to the aconitase/IPM isomerase family.
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:0005515 protein binding IPI 19762596
GO:0051539 4 iron, 4 sulfur cluster binding IDA 16407072
genes like me logo Genes that share ontologies with ACO1: view
genes like me logo Genes that share phenotypes with ACO1: view

Animal Models for ACO1 Gene

MGI Knock Outs for ACO1:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
cytosol 5
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
mitochondrion 5
peroxisome 2
plasma membrane 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 1738601
genes like me logo Genes that share ontologies with ACO1: view

Pathways & Interactions for ACO1 Gene

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

SIGNOR curated interactions for ACO1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006101 citrate metabolic process IDA 8041788
GO:0010040 response to iron(II) ion IDA 8041788
genes like me logo Genes that share ontologies with ACO1: view

Drugs & Compounds for ACO1 Gene

(17) Drugs for ACO1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isocitric acid Experimental Pharma 0
Citric Acid Nutra Agonist, Activator 1001

(27) Additional Compounds for ACO1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
(Z)-But-1-ene-1,2,4-tricarboxylate
cis-Aconitic acid
  • (1Z)-1-Propene-1,2,3-tricarboxylate
  • (1Z)-1-Propene-1,2,3-tricarboxylic acid
  • (Z)-1-Propene-1,2,3-tricarboxylate
  • (Z)-1-Propene-1,2,3-tricarboxylic acid
  • (Z)-Aconitate
585-84-2
Homocitric acid
  • (R)-2-Hydroxy-1,2,4-butanetricarboxylate
  • (R)-2-Hydroxy-1,2,4-butanetricarboxylic acid
  • 2-Hydroxybutane-1,2,4-tricarboxylate
  • 3-Hydroxy-3-carboxyadipate
  • 3-Hydroxy-3-carboxyadipic acid
3562-74-1
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
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:

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 (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ACO1: view

Protein tissue co-expression partners for ACO1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and 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
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
chimpanzee
(Pan troglodytes)
Mammalia ACO1 35
  • 99.63 (n)
  • 99.89 (a)
ACO1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aco1 35
  • 87.33 (n)
  • 92.91 (a)
oppossum
(Monodelphis domestica)
Mammalia ACO1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACO1 36
  • 90 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia aco1 35
  • 74.59 (n)
  • 85.47 (a)
Str.15741 35
African clawed frog
(Xenopus laevis)
Amphibia ratireb-prov 35
zebrafish
(Danio rerio)
Actinopterygii aco1 35
  • 73.57 (n)
  • 82.34 (a)
aco1 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Irp-1A 37
  • 67 (a)
Irp-1B 37
  • 67 (a)
Irp-1B 35
  • 63.91 (n)
  • 68.89 (a)
Irp-1A 36
  • 67 (a)
ManyToMany
Irp-1B 36
  • 67 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007258 35
  • 61.35 (n)
  • 68.44 (a)
worm
(Caenorhabditis elegans)
Secernentea aco-1 36
  • 63 (a)
OneToMany
aco-1 35
  • 61.21 (n)
  • 64.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO2 36
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACO3 35
  • 59.27 (n)
  • 62.3 (a)
soybean
(Glycine max)
eudicotyledons Gma.4937 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3376 35
barley
(Hordeum vulgare)
Liliopsida Hv.336 35
rice
(Oryza sativa)
Liliopsida Os.7192 35
Os03g0136900 35
  • 59.55 (n)
  • 61.29 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10193 35
corn
(Zea mays)
Liliopsida Zm.16984 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

(4) 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
rs3814519 - 32,424,661(-) CCTTG(G/T)CTCCA reference, missense
rs34630459 - 32,427,408(-) GACTC(C/T)GCTTT reference, missense
VAR_069413 -
rs867469 -- 32,383,710(+) AAGAC(A/G)GGTAA upstream-variant-2KB
rs879450 -- 32,383,602(-) CTATC(A/G)TCTAG upstream-variant-2KB

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

Variation tolerance for ACO1 Gene

Residual Variation Intolerance Score: 4.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.84% of all genes are more intolerant (likely to be disease-causing)

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

(7) MalaCards diseases for ACO1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
friedreich ataxia
  • friedreich ataxia with retained reflexes
hyperferritinemia-cataract syndrome
  • hyperferritinemia cataract syndrome
hemochromatosis
  • hfe hemochromatosis, modifier of
infantile cerebellar-retinal degeneration
  • icrd
microcytic anemia
  • iron-refractory iron deficiency anemia
- elite association - COSMIC cancer census association via MalaCards
Search ACO1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACO1

Genetic Association Database (GAD)
ACO1
Human Genome Epidemiology (HuGE) Navigator
ACO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACO1
genes like me logo Genes that share disorders with ACO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Folding and turnover of human iron regulatory protein 1 depend on its subcellular localization. (PMID: 17244191) Martelli A. … Moulis J.M. (FEBS J. 2007) 3 23
  3. Inhibition of an iron-responsive element/iron regulatory protein-1 complex by ATP binding and hydrolysis. (PMID: 17521334) Popovic Z. … Templeton D.M. (FEBS J. 2007) 3 23
  4. [The expression of TfR1 mRNA and IRP1 mRNA in the placenta from different maternal iron status]. (PMID: 17877204) Liu C.Y. … Xu H. (Zhonghua Xue Ye Xue Za Zhi 2007) 3 23
  5. Effect of hypoxia on the binding and subcellular distribution of iron regulatory proteins. (PMID: 17200797) Christova T. … Templeton D.M. (Mol. Cell. Biochem. 2007) 3 23

Products for ACO1 Gene

Sources for ACO1 Gene

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