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ACO1 aconitase 1 [ Homo sapiens (human) ]

Gene ID: 48, updated on 13-Mar-2020

Summary

Official Symbol
ACO1provided by HGNC
Official Full Name
aconitase 1provided by HGNC
Primary source
HGNC:HGNC:117
See related
Ensembl:ENSG00000122729 MIM:100880
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

Genomic context

See ACO1 in Genome Data Viewer
Location:
9p21.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (32384603..32454769)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32384601..32450834)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987059 Neighboring gene Sharpr-MPRA regulatory region 8424 Neighboring gene solute carrier family 25 member 5 pseudogene 8 Neighboring gene DExD/H-box helicase 58 Neighboring gene TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase Neighboring gene small integral membrane protein 27

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
3 iron, 4 sulfur cluster binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
4 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
4 iron, 4 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
4 iron, 4 sulfur cluster binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding NAS
Non-traceable Author Statement
more info
PubMed 
aconitate hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aconitate hydratase activity IDA
Inferred from Direct Assay
more info
PubMed 
aconitate hydratase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
citrate dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
iron-responsive element binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron-responsive element binding IDA
Inferred from Direct Assay
more info
PubMed 
iron-responsive element binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
citrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
citrate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
citrate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
intestinal absorption IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
regulation of translation IEA
Inferred from Electronic Annotation
more info
 
response to iron(II) ion IDA
Inferred from Direct Assay
more info
PubMed 
tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_011516190.1

NCBI Reference Sequences (RefSeq)

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_001278352.1NP_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, BC018103, BP287929, DA103947, DA780353
    Consensus CDS
    CCDS6525.1
    UniProtKB/Swiss-Prot
    P21399
    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
    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
    P21399
    UniProtKB/TrEMBL
    V9HWB7
    Related
    ENSP00000309477.5, ENST00000309951.8
    Conserved Domains (1) summary
    PTZ00092
    Location:2889
    PTZ00092; aconitate hydratase-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    32384603..32454769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517888.2XP_011516190.1  cytoplasmic aconitate hydratase isoform X1

    See identical proteins and their annotated locations for XP_011516190.1

    UniProtKB/Swiss-Prot
    P21399
    UniProtKB/TrEMBL
    V9HWB7
    Conserved Domains (1) summary
    PTZ00092
    Location:2889
    PTZ00092; aconitate hydratase-like protein; Provisional
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