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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACO1 Gene

protein-coding   GIFtS: 62
GCID: GC09P032374

aconitase 1, soluble


(Previous symbol: IREB1)
 Explore 30 diseases affiliated with
ACO1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACO1    

Aliases
for ACO1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aconitase 1, Soluble1 2     EC 4.2.1.33 8
IREB11 2 3 5     ACONS2
IRP11 2 3     IREBP12
IREBP1 2     Aconitate Hydratase2
Citrate Hydro-Lyase2 3     Cytoplasmic Aconitate Hydratase2
Ferritin Repressor Protein2 3     Iron-Responsive Element Binding Protein 12
Iron Regulatory Protein 12 3     Aconitase3
Iron-Responsive Element-Binding Protein 12 3     EC 4.2.18
IRE-BP 12 3     

External Ids:    HGNC: 1171   Entrez Gene: 482   Ensembl: ENSG000001227297   OMIM: 1008805   UniProtKB: P213993   

Export aliases for ACO1 gene to outside databases

Previous GC identifers: GC09P032696 GC09P032554


Summaries
for ACO1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ACO1:
Aconitase 1, also known as iron regulatory element binding protein 1 (IREB1), is a cytosolic protein which binds to
iron-responsive elements (IREs). IREs are stem-loop structures found in the 5' UTR of ferritin mRNA, and in the 3' UTR
of transferrin receptor mRNA. The iron-induced binding to the IRE results in repression of translation of ferritin
mRNA, and inhibition of degradation of the otherwise rapidly degrading transferrin receptor mRNA. Thus, IREB1 plays a
central role in cellular iron homeostasis. It was also shown to have aconitase activity, and hence grouped with the
aconitase family of enzymes. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACOC_HUMAN, P21399
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
Function: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity)




Genomic Views
for ACO1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACO1 gene promoter:
         Pbx1a   AP-1   RelA   PPAR-gamma1   SRY   FOXO4   FOXO1a   PPAR-gamma2   FOXO1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p21.1   Ensembl cytogenetic band:  9p21.1   HGNC cytogenetic band: 9p21.1

ACO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACO1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P032374:  view genomic region     (about GC identifiers)

Start:
 32,384,601 bp from pter      End:
 32,450,834 bp from pter
Size:
 66,234 bases      Orientation:
 plus strand

Proteins
for ACO1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ACOC_HUMAN, P21399 (See protein sequence)
Recommended Name: Cytoplasmic aconitate hydratase  
Size: 889 amino acids; 98399 Da
Cofactor: Binds 1 4Fe-4S cluster per subunit
Subunit: Interacts (when associated with the 4Fe-4S) with FBXL5. Interacts with frataxin(81-210)
Subcellular location: Cytoplasm
2 PDB 3D structures from and Proteopedia for ACO1:
2B3X (3D)        2B3Y (3D)    
Secondary accessions: D3DRK7 Q14652 Q5VZA7

Explore the universe of human proteins at neXtProt for ACO1: NX_P21399

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21399

    • 4/34 DME Specific Peptides for ACO1 (P21399) (see all 34)
     GPKRPQD  YGSRRGN  ANYLASP  KINPVCP 

    ACO1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002188.1  
    ENSEMBL proteins: 
     ENSP00000309477   ENSP00000369255   ENSP00000369253   ENSP00000438733  

    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for ACO1
    Uscn Proteins for ACO1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm NAS1738601
    GO:0005739mitochondrion IDA--
    GO:0005783endoplasmic reticulum IDA16144863
    GO:0005792microsome ----


    ACO1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ACO1

    Protein Domains /
    Families
    for ACO1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACO1 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR001030 Acoase/IPM_deHydtase_lsu_aba
     IPR018136 Aconitase_4Fe-4S_BS
     IPR000573 AconitaseA/IPMdHydase_ssu_swvl
     IPR015932 Aconitase/IPMdHydase_lsu_aba_2
     IPR015934 Aconitase/Fe_reg_prot_2/AcnD

    Graphical View of Domain Structure for InterPro Entry P21399

    ProtoNet protein and cluster: P21399

    2 Blocks protein families:
    IPB000573 Aconitate hydratase
    IPB001030 Aconitate hydratase


    UniProtKB/Swiss-Prot: ACOC_HUMAN, P21399
    Similarity: Belongs to the aconitase/IPM isomerase family


    Function
    for ACO1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ACOC_HUMAN, P21399
    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
    Function: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity)
    Catalytic activity: Citrate = isocitrate

         Genatlas biochemistry entry for ACO1:
    bifunctional cytosolic aconitase,iron-responsive element binding protein

    Enzyme Numbers (IUBMB): EC 4.2.1.31 2 EC 4.2.12

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACO1
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate ACO1:
    hsa-miR-3671 hsa-miR-548m hsa-miR-141 hsa-miR-607 hsa-miR-3121-3p hsa-miR-200a hsa-miR-3647-3p
    SwitchGear 3'UTR luciferase reporter plasmid: ACO1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACO1 (see all 7)
    OriGene shRNA RFP: ACO1
    OriGene siRNA: ACO1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACO1

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding NAS1903202
    GO:0003994aconitate hydratase activity IDA8041788
    GO:0005515protein binding IPI19762596
    GO:0030350iron-responsive element binding IDA8041788
    GO:0046872metal ion binding IEA--


    ACO1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ACO1:
     Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for ACO1: Aco1tm1.2Mwh Aco1tm1Roua
         3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Aco1):
     homeostasis/metabolism  mortality/aging  normal 

    ACO1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ACO1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    		Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics1.00
    2iron metabolism in placenta
    		iron metabolism in placenta1.00
    3Glyoxylate and dicarboxylate metabolism
    		Glyoxylate and dicarboxylate metabolism1.00
    4TCA cycle II (eukaryotic)
    		TCA cycle II (eukaryotic)1.00
    5TCA Cycle
    		Citrate cycle (TCA cycle)0.65

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for ACO1 
        iron metabolism in placenta
    TCA cycle II (eukaryotic)

    1 PharmGKB Pathway for ACO1
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    3         Kegg Pathways  (Kegg details for ACO1):
        Citrate cycle (TCA cycle)
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways


    ACO1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/16 Interacting proteins for ACO1 (P213991, 3 ENSP000003094774) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FBXL5Q9UKA13, ENSP000003448664I2D: score=1 STRING: ENSP00000344866
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    NCKAP1Q9Y2A73, ENSP000003542514I2D: score=1 STRING: ENSP00000354251
    NCAM2O153943I2D: score=1 
    NEBP209291EBI-2847111,EBI-1049657
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle IEA--
    GO:0006101citrate metabolic process IDA16527810
    GO:0006417regulation of translation IEA--
    GO:0006879cellular iron ion homeostasis IEA--
    GO:0008152metabolic process ----


    ACO1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACO1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACO1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACO1

    6 HMDB Compounds for ACO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Citric acid2-Hydroxy-1,2,3-propanetricarboxylate (see all 20)77-92-9--
    IronArmco iron (see all 19)7439-89-6--
    Isocitric acid1-Hydroxy-1,2,3-propanetricarboxylate (see all 15)320-77-4--
    SulfideSulfide (see all 4)18496-25-8--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    cis-Aconitic acid(1Z)-1-Propene-1,2,3-tricarboxylate (see all 18)585-84-2--
    10/38 Novoseek chemical compound relationships for ACO1 gene (see all 38)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 87.7 752 11779155 (7), 9950149 (6), 11812787 (6), 10704227 (6) (see all 99)
    iron-sulfur 86.4 49 1421965 (2), 8203918 (2), 9092825 (2), 17244191 (2) (see all 33)
    cubane 71.2 4 12972614 (1), 15636585 (1), 18274988 (1), 8349646 (1)
    cis-aconitate 67.2 1 10419470 (1)
    5-aminolevulinic acid 63.3 4 11741608 (1), 10522551 (1), 8290565 (1), 7881153 (1)
    ferric ammonium citrate 62.2 1 16479012 (1)
    deferoxamine 56.2 5 10704227 (1), 8727377 (1), 12547239 (1), 17200797 (1)
    2-mercaptoethanol 52.1 6 1856222 (2), 10816424 (1), 7657289 (1)
    citrate 49.3 3 11085915 (1), 9688217 (1), 17095152 (1)
    isocitrate 47.6 1 11085915 (1)

    Search CenterWatch for drugs/clinical trials and news about ACO1 / ACOC 

    Transcripts
    for ACO1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ACO1 gene: 
    NM_002197.2  

    Unigene Cluster for ACO1:

    Aconitase 1, soluble
    Hs.567229  [show with all ESTs]
    Unigene Representative Sequence: AB209480
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000309951(uc010mjh.1 uc003zqw.4 uc003zqy.4) ENST00000379923(uc003zqx.4)
    ENST00000379921 ENST00000541043

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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB209480.1 AF261088.1 AK057904.1 AK308752.1 BC018103.1 BX538349.1 M58510.1 Z11559.1 

    9 DOTS entries:

    DT.101974581  DT.455868  DT.100791889  DT.101976511  DT.121166310  DT.100791888  DT.121166345  DT.95318930 
    DT.91896374 

    24/304 AceView cDNA sequences (see all 304):

    AW172911 AA554694 CA428004 H16014 BM712939 BE389852 AI168068 BV178824 
    AW873002 CA308270 BQ223482 BM715425 BU517058 CB115318 BQ948863 BP382141 
    AA375771 BQ018040 BC018103 AA827503 AA383304 CA441353 BG250385 AI127153 

    GeneLoc Exon Structure


    Expression
    for ACO1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATAGGTCGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ACO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACO1

    SOURCE GeneReport for Unigene cluster: Hs.567229
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACO1: 
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              Glucose Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ACO1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ACO1 gene from 9/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ACO11 aconitase 1, soluble 78.64(n)
    87.61(a)    		   373916  NM_001030536.1  NP_001025707.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ACO16
    		 --
    		 81(a)
    		 1 ↔ 1
    		 GL343288.1(710-46765)
    African clawed frog
    (Xenopus laevis)    		 Amphibia ratireb-prov2 aconitase 1 76.32(n)    BC043991.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii aco11 aconitase 1, soluble 73.57(n)
    82.34(a)    		   568448  NM_001034983.1  NP_001030155.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Irp-1A3
    Irp-1B1    		 regulation of translational initiation by
    iron more3
    Iron regulatory protein 1B1    		 67(a)
    (best of 2)3
    63.91(n)1
    68.89(a)1    		   94C33
    412691  NM_079579.21  NP_524303.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea aco-11 Protein ACO-1 61.25(n)
    64.13(a)    		   181324  NM_077497.2  NP_509898.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ACO31 aconitate hydratase 2 59.31(n)
    62.3(a)    		   815120  NM_126589.2  NP_178634.2 
    rice
    (Oryza sativa)    		 Liliopsida Os.71922 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.12(n)    AK067183.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria acnA6
    ybhJ6
    		 predicted hydratase
    		 51(a)
    17(a)
    		 1 ↔ many
    possible ortholog
    		 Chromosome(1333855-1336530)
    Chromosome(802726-804987)


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

    Paralogs
    for ACO1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACO1 gene
    IREB22  ACO22  
    4 SIMAP similar genes for ACO1 using alignment to 2 protein entries:     ACOC_HUMAN (see all proteins):
    IRP1    DKFZp686P10119    IREB2    IREB2 variant

    ACO1 for paralogs           About GeneDecksing



    Genomic Variants
    for ACO1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1196 NCBI SNPs in ACO1 are shown (see all 1196)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs763140661,2
    		F,--32382681(+) CCCTAT/CGAATT 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1853372631,2
    		--32382796(+) AAGGTC/GAGAAA 1 -- us2k10--------
    rs788454911,2
    		--32383133(+) AAGAGC/AAACAG 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1417392171,2
    		--32383143(+) GACTGC/GGGGGA 1 -- us2k10--------
    rs1508078661,2
    		--32383195(+) TAATAA/CATCTC 1 -- us2k10--------
    rs1380978891,2
    		--32383399(+) CCAAGA/GGGACT 1 -- us2k10--------
    rs1405569391,2
    		C,--32383537(+) GAAAT-/ACAGTTA 1 -- us2k10--------
    rs1881370151,2
    		--32383544(+) AGTTAC/TTTCCC 1 -- us2k10--------
    rs8794501,2
    		C,F,A,H,--32383600(-) CTATCG/ATCTAG 1 -- us2k111Minor allele frequency- A:0.04NA EA NS WA 1264
    rs1808473511,2
    		--32383669(+) AAGGAC/TTGAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACO1 (32384601 - 32450834 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACO1
         1 Indel: 52805

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    Disorders / Diseases
    for ACO1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ACO1 for disorders           About GeneDecksing

    OMIM gene information: 100880    OMIM disorders: --

    20/30 diseases for ACO1 (see all 30):    About MalaCards
    x-linked sideroblastic anemia    x-linked sideroblastic anemia with ataxia    hyperferritinemia-cataract syndrome    iron deficiency anemia
    iron overload    sideroblastic anemia    restless legs syndrome    friedreich ataxia
    microcytic anemia    beta thalassemia    hemochromatosis    sickle cell disease
    anemia    thalassemia    parkinson's disease    cataract
    ataxia    acne    neurodegenerative disease    hepatoblastoma

    10/13 Novoseek disease relationships for ACO1 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron overload 63.2 4 7657289 (1), 12196178 (1), 20364084 (1)
    iron deficiency 58.7 14 8668195 (2), 17877204 (2), 9950149 (1), 9092514 (1) (see all 7)
    hereditary hemochromatosis 50.3 4 16503547 (2), 11783942 (1), 16531245 (1)
    friedreich ataxia 46.1 2 15970401 (2)
    hemochromatosis 28.2 11 7657289 (7), 11783942 (1)
    iron deficiency anemia 25.5 2 16503547 (1), 17877204 (1)
    erythroleukemia 14.7 1 9933651 (1)
    neurofibrillary tangles 6.79 1 9555030 (1)
    parkinson disease 4.23 1 12423242 (1)
    tumors 2.11 3 20405006 (2)

    Human Genome Epidemiology (HuGE) Navigator: ACO1 (2 documents)

    Export disorders for ACO1 gene to outside databases

    Publications
    for ACO1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACO1 gene, integrated from 9 sources (see all 252):
    (articles sorted by number of sources associating them with ACO1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the cDNA encoding an RNA regulatory protein -- the human iron-responsive element-binding protein. (PubMed id 2172968)1, 2, 3, 9 Rouault T.A.... Klausner R.D. (1990)
    2. Crystal structure of human iron regulatory protein 1 as cytosolic aconitase. (PubMed id 16407072)1, 2, 9 Dupuy J....Fontecilla-Camps J.C. (2006)
    3. Homology between IRE-BP, a regulatory RNA-binding protein, aconitase, and isopropylmalate isomerase. (PubMed id 1903202)1, 2, 9 Hentze M.W. and Argos P. (1991)
    4. Expression of active iron regulatory factor from a full-length human cDNA by in vitro transcription/translation. (PubMed id 1738601)1, 2, 9 Hirling H....Kuehn L. (1992)
    5. An E3 ligase possessing an iron responsive hemerythrin domain is a regulator of iron homeostasis. (PubMed id 19762597)1, 2 Salahudeen A.A.... Bruick R.K. (2009)
    6. Control of iron homeostasis by an iron-regulated ubiquitin ligase. (PubMed id 19762596)1, 2 Vashisht A.A.... Wohlschlegel J.A. (2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The bifunctional iron-responsive element binding protein/cytosolic aconitase: the role of active-site residues in ligand binding and regulation. (PubMed id 8041788)1, 2 Philpott C.C.... Rouault T.A. (1994)
    9. A regulated RNA binding protein also possesses aconitase activity. (PubMed id 1946430)1, 2 Kaptain S.... Klausner R.D. (1991)
    10. Chromosomal localization of nucleic acid-binding proteins by affinity mapping: assignment of the IRE-binding protein gene to human chromosome 9. (PubMed id 2771641)1, 3 Hentze M.W....Klausner R.D. (1989)

    External Searches for ACO1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing ACO1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 48 HGNC: 117 AceView: ACO1 Ensembl:ENSG00000122729 euGenes: HUgn48
    ECgene: ACO1 Kegg: 48 H-InvDB: ACO1

    Other Databases showing ACO1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACO1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACO1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Aconitase

    Intellectual Property
    for ACO1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ACO1 gene:
    Search GeneIP for patents involving ACO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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