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ACO1 aconitase 1 [ Homo sapiens (human) ]

Gene ID: 48, updated on 9-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
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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