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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
  • IREB1 3 4
  • IRP1 3 4
  • Cytoplasmic Aconitate Hydratase 3
  • Epididymis Luminal Protein 60 3
  • Cytoplasmic Aconitase 3
  • EC 4.2.1.3 4
  • Aconitase 4
  • IRE-BP 1 4
  • 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 Ehrlichiosis and Infantile Cerebellar-Retinal Degeneration. Among its related pathways are Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics and Carbon metabolism. Gene Ontology (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.

Additional gene information for ACO1 Gene

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

GeneHancer (GH) Regulatory Elements for ACO1 Gene

Promoters and enhancers for ACO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J032382 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 660 -0.7 -673 3.3 ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF207 ZNF143 KLF13 ACO1 TOPORS ASS1P12 SMU1 DFFBP1 NDUFB6 NFX1 TCEA1P4 ENSG00000223440 SLC25A5P8
GH09J031847 Promoter/Enhancer 1.2 EPDnew ENCODE 650 -535.9 -535858 1.5 DRAP1 FOXA2 SAP130 ZNF644 KMT2B ZNF48 ZSCAN9 E2F1 GATAD1 POLR2A LOC105376013 ACO1 GC09P031700
GH09J032386 Enhancer 0.7 ENCODE dbSUPER 650.7 +1.7 1658 0 SP1 RXRA MAX HNF4A PRDM10 ACO1 LOC105376014
GH09J032422 Enhancer 1.3 Ensembl ENCODE dbSUPER 19.3 +40.8 40812 6.5 FOXA2 ARID4B ZNF48 YY1 FOS RXRA NFYC REST PPARG KAT8 ACO1 NDUFB6 TMEM215 DDX58 LOC105376014
GH09J032523 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 10.3 +141.1 141059 4.3 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 ETS1 YY1 ZNF213 DDX58 NDUFB6 ACO1 NFX1 LOC101060445
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACO1 gene promoter:
  • FOXO4
  • FOXO1a
  • FOXO1
  • AP-1
  • Hlf
  • Pbx1a
  • PPAR-gamma2
  • PPAR-gamma1
  • SRY
  • RelA

Genomic Locations for ACO1 Gene

Genomic Locations for ACO1 Gene
chr9:32,384,603-32,454,769
(GRCh38/hg38)
Size:
70,167 bases
Orientation:
Plus strand
chr9:32,384,601-32,454,767
(GRCh37/hg19)
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

Post-translational modifications for ACO1 Gene

  • Ubiquitination at Lys772, Lys736, Lys639, and posLast=141141
  • Modification sites at PhosphoSitePlus

Other Protein References for ACO1 Gene

No data available for DME Specific Peptides for ACO1 Gene

Domains & Families for ACO1 Gene

Gene Families for ACO1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

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

Function for ACO1 Gene

Molecular function for ACO1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Citrate = isocitrate.
GENATLAS Biochemistry:
bifunctional cytosolic aconitase,iron-responsive element binding protein

Enzyme Numbers (IUBMB) for ACO1 Gene

Phenotypes From GWAS Catalog 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 --
GO:0005515 protein binding IPI 19762596
GO:0016829 lyase activity IEA --
GO:0030350 iron-responsive element binding IDA,IMP 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:
  • Aco1 Aco1<tm1Roua>
  • Aco1 Aco1<tm1.2Mwh>

Animal Model Products

  • Taconic Biosciences Mouse Models for ACO1

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 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IMP,NAS 1738601
GO:0005739 mitochondrion IDA --
GO:0005783 endoplasmic reticulum IDA 16144863
GO:0005794 Golgi apparatus IDA 16144863
GO:0005829 cytosol 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 IMP,IDA 1281544
GO:0006417 regulation of translation IEA --
GO:0006879 cellular iron ion homeostasis 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 37
Citric Acid Approved, Vet_approved Nutra Agonist, Activator 1243
Water Approved Pharma 0
Isocitric acid Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
(Z)-But-1-ene-1,2,4-tricarboxylate
  • (Z)-1,2,4-But-1-enetricarboxylic acid
  • But-1-ene-1,2,4-tricarboxylate
  • cis-Homoaconitate
  • cis-Homoaconitic acid
  • homo-cis-Aconitate
cis-Aconitic acid
  • (Z)-1-Propene-1,2,3-tricarboxylic acid
  • cis-1-Propene-1,2,3-tricarboxylic acid
  • (Z)-1-Propene-1,2,3-tricarboxylate
  • cis-Aconitate
  • cis-1-Propene-1,2,3-tricarboxylate
585-84-2
Homocitric acid
  • (R)-2-Hydroxy-1,2,4-butanetricarboxylic acid
  • (R)-2-Hydroxybutane-1,2,4-tricarboxylic acid
  • (R)-Homocitric acid
  • 3-Hydroxy-3-carboxyadipic acid
  • Homocitrate
3562-74-1
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with ACO1: view

Transcripts for ACO1 Gene

mRNA/cDNA for ACO1 Gene

Unigene Clusters for ACO1 Gene

Aconitase 1, soluble:
Representative Sequences:

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, 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

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 33
  • 99.63 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACO1 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACO1 34 33
  • 90.63 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACO1 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACO1 34 33
  • 89.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aco1 33
  • 87.33 (n)
mouse
(Mus musculus)
Mammalia Aco1 16 34 33
  • 86.95 (n)
chicken
(Gallus gallus)
Aves ACO1 34 33
  • 78.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACO1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aco1 33
  • 74.59 (n)
Str.15741 33
African clawed frog
(Xenopus laevis)
Amphibia ratireb-prov 33
zebrafish
(Danio rerio)
Actinopterygii aco1 34 33
  • 73.57 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Irp-1A 34 35
  • 67 (a)
ManyToMany
Irp-1B 34 35 33
  • 63.91 (n)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007258 33
  • 61.35 (n)
worm
(Caenorhabditis elegans)
Secernentea aco-1 34 33
  • 61.21 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO2 34
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACO3 33
  • 59.27 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3376 33
soybean
(Glycine max)
eudicotyledons Gma.4937 33
rice
(Oryza sativa)
Liliopsida Os03g0136900 33
  • 59.55 (n)
Os.7192 33
wheat
(Triticum aestivum)
Liliopsida Ta.10193 33
barley
(Hordeum vulgare)
Liliopsida Hv.336 33
corn
(Zea mays)
Liliopsida Zm.16984 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.544 34
  • 62 (a)
OneToMany
Cin.5028 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5028 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for ACO1: view image

Paralogs for ACO1 Gene

Paralogs for ACO1 Gene

(4) SIMAP similar genes for ACO1 Gene using alignment to 2 proteins:

  • ACOC_HUMAN
  • Q5VZA6_HUMAN
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 Variation AA Info Type
rs1000000383 -- 32,442,275(+) C/T intron_variant
rs1000030176 -- 32,442,648(+) C/T intron_variant
rs1000032785 -- 32,402,450(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000067564 -- 32,392,790(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000080429 -- 32,409,019(+) T/G 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)

Additional Variant Information for ACO1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACO1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search ACO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ACO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 TA … Klausner RD (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4 22 58
  2. Crystal structure of human iron regulatory protein 1 as cytosolic aconitase. (PMID: 16407072) Dupuy J … Fontecilla-Camps JC (Structure (London, England : 1993) 2006) 3 4 22 58
  3. Homology between IRE-BP, a regulatory RNA-binding protein, aconitase, and isopropylmalate isomerase. (PMID: 1903202) Hentze MW … Argos P (Nucleic acids research 1991) 3 4 22 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin. (PMID: 20053667) Condò I … Testi R (Human molecular genetics 2010) 4 22 58

Products for ACO1 Gene

Sources for ACO1 Gene

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