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ACO1 Gene

protein-coding   GIFtS: 65
GCID: GC09P032374

Aconitase 1, Soluble


(Previous symbol: IREB1)
  See ACO1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aconitase 1, Soluble1 2     ACONS2
IREB11 2 3 5     HEL602
Citrate Hydro-Lyase2 3     IREBP2
Ferritin Repressor Protein2 3     IREBP12
Iron Regulatory Protein 12 3     Aconitate Hydratase, Cytoplasmic2
Iron-Responsive Element-Binding Protein 12 3     Cytoplasmic Aconitate Hydratase2
IRP12 3     Epididymis Luminal Protein 602
IRE-BP 12 3     Iron-Responsive Element Binding Protein 12
EC 4.2.1.33 8     Aconitase3
Aconitate Hydratase1     EC 4.2.18
cytoplasmic1     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hyperferritinemia cataract syndrome, and x-linked sideroblastic anemia with ataxia. GO annotations related to this gene include iron-responsive element binding and RNA binding. An important paralog of this gene is IREB2.

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)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   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 plasmidACO1 promoter sequence
   Search Chromatin IP Primers for ACO1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
32,454,767 bp from pter
Size:
70,167 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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

Explore proteomics data for ACO1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys141, Lys639, Lys736, Lys772
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACO1 (P21399) (see all 34)
     GPKRPQD  YGSRRGN  ANYLASP  KINPVCP 


    See ACO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001265281.1  NP_002188.1  

    ENSEMBL proteins: 
     ENSP00000369255   ENSP00000309477   ENSP00000438733  

    ACO1 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for ACO1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR000573 AconitaseA/IPMdHydase_ssu_swvl
     IPR015932 Aconitase/IPMdHydase_lsu_aba_2
     IPR015937 Acoase/IPM_deHydtase
     IPR001030 Acoase/IPM_deHydtase_lsu_aba
     IPR018136 Aconitase_4Fe-4S_BS

    Graphical View of Domain Structure for InterPro Entry P21399

    ProtoNet protein and cluster: P21399

    2 Blocks protein domains:
    IPB000573 Aconitate hydratase
    IPB001030 Aconitate hydratase


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


    Find genes that share domains with ACO1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding NAS1903202
    GO:0003994aconitate hydratase activity IDA1946430
    GO:0005515protein binding IPI19762596
    GO:0030350iron-responsive element binding IDA8041788
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ACO1           About GenesLikeMe


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

         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Aco1):
     homeostasis/metabolism  mortality/aging  normal 

    Find genes that share phenotypes with ACO1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ACO1: Aco1tm1.2Mwh Aco1tm1Roua

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACO1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACO1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACO1

    miRNA
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    7 qRT-PCR 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 plasmidACO1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACO1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ACO1 (NM_002197)
    Sino Biological Human cDNA Clone for ACO1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACO1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACO1

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    eBioscience FlowRNA Probe Sets ( VA1-12268) for ACO1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACOC_HUMAN, P21399: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    cytosol4
    mitochondrion4
    peroxisome2
    plasma membrane2
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS1738601
    GO:0005739mitochondrion IDA--
    GO:0005783endoplasmic reticulum IDA16144863
    GO:0005794Golgi apparatus IDA16144863
    GO:0005829cytosol IDA16527810

    Find genes that share ontologies with ACO1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ACO1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Carbon metabolism
    Carbon metabolism0.38
    2-Oxocarboxylic acid metabolism0.00
    Biosynthesis of amino acids0.38
    2Citric acid cycle (TCA cycle)
    Citrate cycle (TCA cycle)0.55
    3Metabolism
    Metabolic pathways0.38
    4Iron metabolism in placenta
    Iron metabolism in placenta
    5Glyoxylate and dicarboxylate metabolism
    Glyoxylate and dicarboxylate metabolism


    Find genes that share SuperPaths with ACO1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ACO1
        Iron metabolism in placenta


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

    Selected Kegg Pathways  (Kegg details for ACO1) (see all 6):
        Citrate cycle (TCA cycle)
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways
    Carbon metabolism
    2-Oxocarboxylic acid metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACO1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACO1 (P213991, 3 ENSP000003094774) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    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): Selected biological process terms (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 ----

    Find genes that share ontologies with ACO1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACO1 (ACOC)

    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--

    Selected Novoseek inferred 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)



    Find genes that share compounds with ACO1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACO1 gene (2 alternative transcripts): 
    NM_001278352.1  NM_002197.2  

    Unigene Cluster for ACO1:

    Aconitase 1, soluble
    Hs.567229  [show with all ESTs]
    Unigene Representative Sequence: AB209480
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379923(uc003zqx.4) ENST00000309951(uc010mjh.1 uc003zqw.4 uc003zqy.4)
    ENST00000541043
    miRNA
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    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 plasmidACO1 3' UTR sequence
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 304):

    BQ948863 BM458955 AV708239 CB164755 BM564913 BM673910 BM662976 AA827503 
    BE389852 BU542772 CA428004 AW172911 BP382141 BG250385 AW873002 BQ018040 
    AW451375 BM988372 AA554694 H16014 BV178824 AU280424 AI168068 AI127153 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACO1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATAGGTCGG
    ACO1 Expression
    About this image


    ACO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ACO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACO1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567229
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACO1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACO1

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACO1 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aco11 , 5 aconitase 11, 5 86.95(n)1
    93.36(a)1
      4 (20.24 cM)5
    114281  NM_007386.21  NP_031412.21 
     401430815 
    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
    aconitase 1, soluble
    86(a)
    1 ↔ 1
    GL343288.1(260-65405)
    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_079579.31  NP_524303.21 
    worm
    (Caenorhabditis elegans)
    Secernentea aco-11 aco-1 61.21(n)
    64.13(a)
      181324  NM_077497.3  NP_509898.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ACO26
    Putative mitochondrial aconitase isozyme; similari...
    27(a)
    1 → many
    X(56444-58813) YJL200C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACO31 ACO3 59.27(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 


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

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

    Find genes that share paralogs with ACO1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACO1 (see all 1447)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs763140661,2
    C,F--32382681(+) CCCTAT/CGAATT 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1853372631,2
    --32382796(+) AAGGTC/GAGAAA 1 -- us2k10--------
    rs788454911,2
    F--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 - 32454767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ACO1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521047CNV Loss19592680
    nsv893011CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACO1
    DNA2.0 Custom Variant and Variant Library Synthesis for ACO1

    (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.)
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    OMIM gene information: 100880    OMIM disorders: --

    3 diseases for ACO1:    
    About MalaCards
    hyperferritinemia cataract syndrome    x-linked sideroblastic anemia with ataxia    x-linked sideroblastic anemia

    1 disease from the University of Copenhagen DISEASES database for ACO1:
    X-linked sideroblastic anemia with ataxia

    Find genes that share disorders with ACO1           About GenesLikeMe

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): ACO1
    Human Genome Epidemiology (HuGE) Navigator: ACO1 (2 documents)

    Export disorders for ACO1 gene to outside databases

    (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)
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    PubMed articles for ACO1 gene, integrated from 10 sources (see all 258):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Structure 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. (Nucleic Acids Res. 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. (Nucleic Acids Res. 1992)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. (PubMed id 20574843)1, 4 Yang X.R....Goldstein A.M. (Fam. Cancer 2010)
    7. 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. (Science 2009)
    8. Control of iron homeostasis by an iron-regulated ubiquitin ligase. (PubMed id 19762596)1, 2 Vashisht A.A.... Wohlschlegel J.A. (Science 2009)
    9. 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. (Genome Res. 2004)
    10. 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. (Proc. Natl. Acad. Sci. U.S.A. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACO1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Aconitase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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