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    ACO1 aconitase 1 [ Homo sapiens (human) ]

    Gene ID: 48, updated on 3-Dec-2024

    Summary

    Official Symbol
    ACO1provided by HGNC
    Official Full Name
    aconitase 1provided by HGNC
    Primary source
    HGNC:HGNC:117
    See related
    Ensembl:ENSG00000122729 MIM:100880; AllianceGenome:HGNC:117
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IRP1; ACONS; HEL60; IREB1; IREBP; IREBP1
    Summary
    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]
    Expression
    Broad expression in fat (RPKM 69.1), kidney (RPKM 53.2) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ACO1 in Genome Data Viewer
    Location:
    9p21.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (32384643..32454769)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (32400543..32470694)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32384641..32454767)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987059 Neighboring gene RNA, 5S ribosomal pseudogene 281 Neighboring gene MPRA-validated peak7216 silencer Neighboring gene solute carrier family 25 member 5 pseudogene 8 Neighboring gene Sharpr-MPRA regulatory region 8424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19825 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:32392965-32393536 Neighboring gene uncharacterized LOC101060445 Neighboring gene uncharacterized LOC124902138 Neighboring gene RNA sensor RIG-I

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study to identify genetic determinants of severe asthma.
    EBI GWAS Catalog
    Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3 iron, 4 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 3 iron, 4 sulfur cluster binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables 4 iron, 4 sulfur cluster binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 4 iron, 4 sulfur cluster binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 4 iron, 4 sulfur cluster binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables aconitate hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables aconitate hydratase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables aconitate hydratase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables iron-responsive element binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables iron-responsive element binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iron-responsive element binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables iron-sulfur cluster binding EXP
    Inferred from Experiment
    more info
    PubMed 
    enables mRNA regulatory element binding translation repressor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in citrate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in citrate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in citrate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intestinal absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to iron(II) ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    cytoplasmic aconitate hydratase
    Names
    aconitase 1, soluble
    aconitate hydratase, cytoplasmic
    citrate hydro-lyase
    cytoplasmic aconitase
    cytosplasmic aconitase
    epididymis luminal protein 60
    epididymis secretory sperm binding protein
    ferritin repressor protein
    iron regulatory protein 1
    iron-responsive element-binding protein 1
    soluble aconitase
    NP_001265281.1
    NP_001349769.1
    NP_002188.1
    XP_047279386.1
    XP_054218981.1
    XP_054218982.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001278352.2NP_001265281.1  cytoplasmic aconitate hydratase

      See identical proteins and their annotated locations for NP_001265281.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AF261088, AL161783, BC018103, BP287929, DA103947, DA780353
      Consensus CDS
      CCDS6525.1
      UniProtKB/Swiss-Prot
      D3DRK7, P21399, Q14652, Q5VZA7
      UniProtKB/TrEMBL
      Q9HBB2, V9HWB7
      Related
      ENSP00000438733.2, ENST00000541043.5
      Conserved Domains (1) summary
      PTZ00092
      Location:2889
      PTZ00092; aconitate hydratase-like protein; Provisional
    2. NM_001362840.2NP_001349769.1  cytoplasmic aconitate hydratase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AF261088, AL161783, BC018103, BP287929, DA780353
      Consensus CDS
      CCDS6525.1
      UniProtKB/Swiss-Prot
      D3DRK7, P21399, Q14652, Q5VZA7
      UniProtKB/TrEMBL
      Q9HBB2, V9HWB7
      Related
      ENSP00000369255.1, ENST00000379923.5
      Conserved Domains (1) summary
      PTZ00092
      Location:2889
      PTZ00092; aconitate hydratase-like protein; Provisional
    3. NM_002197.3NP_002188.1  cytoplasmic aconitate hydratase

      See identical proteins and their annotated locations for NP_002188.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL161783, BC018103, DA409113
      Consensus CDS
      CCDS6525.1
      UniProtKB/Swiss-Prot
      D3DRK7, P21399, Q14652, Q5VZA7
      UniProtKB/TrEMBL
      Q9HBB2, V9HWB7
      Related
      ENSP00000309477.5, ENST00000309951.8
      Conserved Domains (1) summary
      PTZ00092
      Location:2889
      PTZ00092; aconitate hydratase-like protein; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      32384643..32454769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423430.1XP_047279386.1  cytoplasmic aconitate hydratase isoform X1

      UniProtKB/TrEMBL
      Q9HBB2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      32400543..32470694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363006.1XP_054218981.1  cytoplasmic aconitate hydratase isoform X1

      UniProtKB/TrEMBL
      Q9HBB2
    2. XM_054363007.1XP_054218982.1  cytoplasmic aconitate hydratase isoform X2

      UniProtKB/Swiss-Prot
      D3DRK7, P21399, Q14652, Q5VZA7
      UniProtKB/TrEMBL
      Q9HBB2, V9HWB7