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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
  • Aconitate Hydratase, Cytoplasmic 2 3
  • 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 61
  • IRE-BP 1 3 4
  • IREB1 3 4
  • IRP1 3 4
  • Cytoplasmic Aconitate Hydratase 3
  • Epididymis Luminal Protein 60 3
  • Aconitase 4
  • EC 4.2.1 61
  • 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 Ehrlichiosis. Among its related pathways are Citrate cycle (TCA cycle) 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 CIViC summary , 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

Enhancers for ACO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G032422 1.4 Ensembl ENCODE dbSUPER 19.3 +40.8 40813 6.5 FOXA2 ARID4B ZNF48 YY1 FOS NFYC PPARG KAT8 NFIL3 RCOR2 ACO1 NDUFB6 TMEM215 DDX58 LOC105376014
GH09G032429 1.1 Ensembl ENCODE dbSUPER 19.9 +46.7 46676 3.9 CTCF TFAP4 JUND GATA2 JUN SMC3 FOS RAD21 ACO1 DDX58 TMEM215 LOC105376014
GH09G032523 1.4 FANTOM5 ENCODE 10.3 +141.1 141060 4.3 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GATA2 ZNF143 DDX58 GVQW1 NDUFB6 ACO1 NFX1 LOC101060445
GH09G032343 0.9 Ensembl ENCODE 15.8 -39.9 -39921 3.0 TEAD4 MAX CHD1 RBBP5 CHD7 ETS1 POLR2A BCL11A HDAC2 MAFK ACO1 GVQW1 SLC25A5P8
GH09G032382 1.3 ENCODE dbSUPER 10 -0.7 -687 3.3 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 ZNF207 SP3 NDUFB6 ACO1 SLC25A5P8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACO1 on UCSC Golden Path with GeneCards custom track

Promoters for ACO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234284 197 1601 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF143 ZNF207 SP3

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

Selected DME Specific Peptides for ACO1 Gene

P21399:
  • VIAYAIAGT
  • VVGKFVEF
  • YGSRRGN
  • ANYLASP
  • TTDHISPAG
  • SIRVLLE
  • EVYQKIETVN
  • HHNDHKTFIY
  • IAAITSCTNTS
  • LGDSVTTDHISPA
  • NRNFEGR
  • GYGCMTCIGNSG
  • ERIHRSNLVGMGV
  • PLIVLAGKEYG
  • CLGAKQGFKGFQ
  • GPKRPQD
  • KINPVCP
  • KTSLSPGSGVVT
  • LSIADRATIANMCPEYGAT
  • RFDTDVELTY
  • SQDPDFTQVVELDL
  • HQVNLEYLA
  • TSCTNTSNP
  • GWGVGGIEAEA
  • DLVIDHS
  • DAYVLLN
  • SGNRNFEGR
  • IDFEKEP
  • SNLVGMGVIPLEYLPGE
  • RGTFANIR
  • EIQAVERQYVIPGMF
  • GTDSHTTM
  • QDFTGVP
  • GSSRDWAAKG

Post-translational modifications for ACO1 Gene

  • Ubiquitination at Lys141, posLast=639639, Lys736, and Lys772
  • Modification sites at PhosphoSitePlus

Other Protein References for ACO1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACO1 (IREB1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ACO1

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:0003723 RNA binding NAS 1903202
GO:0003994 aconitate hydratase activity TAS,IDA --
GO:0005515 protein binding IPI 19762596
GO:0016829 lyase activity IEA --
GO:0030350 iron-responsive element binding IMP,IDA 1281544
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

  • Taconic Biosciences Mouse Models for ACO1

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACO1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
plasma membrane 2
peroxisome 2
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,TAS --
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:0006099 tricarboxylic acid cycle IEA --
GO:0006101 citrate metabolic process IDA,IMP 1281544
GO:0006417 regulation of translation IEA --
GO:0006879 cellular iron ion homeostasis IEA,TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACO1: view

Drugs & Compounds for ACO1 Gene

(21) Drugs for ACO1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra Enzyme, Other 34
Water Approved Pharma 0
Isocitric acid Experimental Pharma 0
Citric Acid Vet_approved Nutra Agonist, Activator 1160

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

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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ACO1 Gene



Protein tissue co-expression partners for ACO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACO1 Gene:

ACO1

SOURCE GeneReport for Unigene cluster for ACO1 Gene:

Hs.567229

Evidence on tissue expression from TISSUES for ACO1 Gene

  • Liver(4.7)
  • Nervous system(3.9)
  • Intestine(2.8)
  • Heart(2.7)
  • Kidney(2.7)
  • Blood(2.5)
  • Eye(2.2)
  • Lung(2.2)
  • Adrenal gland(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with ACO1: view

Primer Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.63 (n)
oppossum
(Monodelphis domestica)
Mammalia ACO1 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACO1 34 35
  • 90.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACO1 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACO1 34 35
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia Aco1 34
  • 87.33 (n)
mouse
(Mus musculus)
Mammalia Aco1 34 16 35
  • 86.95 (n)
chicken
(Gallus gallus)
Aves ACO1 34 35
  • 78.64 (n)
lizard
(Anolis carolinensis)
Reptilia ACO1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aco1 34
  • 74.59 (n)
Str.15741 34
African clawed frog
(Xenopus laevis)
Amphibia ratireb-prov 34
zebrafish
(Danio rerio)
Actinopterygii aco1 34 35
  • 73.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta Irp-1A 36 35
  • 67 (a)
Irp-1B 36 34 35
  • 63.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007258 34
  • 61.35 (n)
worm
(Caenorhabditis elegans)
Secernentea aco-1 34 35
  • 61.21 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO2 35
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACO3 34
  • 59.27 (n)
soybean
(Glycine max)
eudicotyledons Gma.4937 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3376 34
rice
(Oryza sativa)
Liliopsida Os03g0136900 34
  • 59.55 (n)
Os.7192 34
barley
(Hordeum vulgare)
Liliopsida Hv.336 34
wheat
(Triticum aestivum)
Liliopsida Ta.10193 34
corn
(Zea mays)
Liliopsida Zm.16984 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.544 35
  • 62 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5028 34
Species where no ortholog for ACO1 was found in the sources mined by GeneCards:
  • 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
rs1000000383 -- 32,442,275(+) AGCCC(C/T)CTCCC intron-variant
rs1000030176 -- 32,442,648(+) ATGTT(C/T)TGAAA intron-variant
rs1000032785 -- 32,402,450(+) CAAAG(C/T)AGCAG intron-variant, upstream-variant-2KB
rs1000067564 -- 32,392,790(+) AGAAC(A/T)TAAAT intron-variant
rs1000080429 -- 32,409,019(+) TTTTT(G/T)GATCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1020675 CNV loss 25217958
nsv1153476 CNV duplication 26484159
nsv521047 CNV loss 19592680

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

Human Gene Mutation Database (HGMD)
ACO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACO1

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

Disorders for ACO1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
friedreich ataxia
  • friedreich ataxia with retained reflexes
ehrlichiosis
  • human ehrlichiosis
hyperferritinemia-cataract syndrome
  • hyperferritinemia with or without cataract
infantile cerebellar-retinal degeneration
  • infantile cerebellar retinal degeneration
hemochromatosis
  • hfe hemochromatosis, modifier of
- 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 22 64
  2. Crystal structure of human iron regulatory protein 1 as cytosolic aconitase. (PMID: 16407072) Dupuy J. … Fontecilla-Camps J.C. (Structure 2006) 3 4 22 64
  3. 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 22 64
  4. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. (PMID: 20574843) Yang X.R. … Goldstein A.M. (Fam. Cancer 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for ACO1 Gene

Sources for ACO1 Gene

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