ACO1 aconitase 1, soluble [Homo sapiens (human)] - Gene

Summary

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Official Symbol: ACO1provided by HGNC
Official Full Name: aconitase 1, solubleprovided by HGNC
Primary source: HGNC:117
Locus tag: RP11-334P12.1
See related: Ensembl:ENSG00000122729; HPRD:00013; MIM:100880; Vega:OTTHUMG00000019740
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; IREB1; IREBP; IREBP1
Summary: 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]

Genomic context

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Location :: 9p21.1

Sequence :: Chromosome: 9; NC_000009.11 (32384601..32450834)

See ACO1 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Lead specifically induces dysregulation of IRP1 protein by activating the ERK1/2 signaling pathway indicating a novel role for IRP1 and the ERK/MAPK pathway in vascular endothelial functions.
Title: Lead induces dysregulation of iron regulatory protein 1 via the extracellular signal-regulated kinase pathway in human vascular endothelial cells.
The RNA-binding and aconitase forms of IRP-1 can undergo interconversion dependent on the density of cells growing in culture.
Title: Cell density-dependent shift in activity of iron regulatory protein 1 (IRP-1)/cytosolic (c-)aconitase.
Ggenetic polymorphisms of the iron regulatory protein 1 and 2 genes may be associated with development of age-related macular degeneration.
Title: Genetic polymorphism of the iron-regulatory protein-1 and -2 genes in age-related macular degeneration.
Molecular genetic analysis revealed point mutations within the FTL IRE.
Title: Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.
Dual-luciferase reporter assay showed that iron regulatory protein 1 (IRP)1 was directly downregulated by hypoxia-inducible factor 1/hypoxia response element system.
Title: Effect of hypoxia on the expression of iron regulatory proteins 1 and the mechanisms involved.
Single nucleotide polymorphism in ACO1 gene is associated with cutaneous malignant melanoma.
Title: Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations.
Selective translational control of the Alzheimer amyloid precursor protein transcript by iron regulatory protein-1.
Title: Selective translational control of the Alzheimer amyloid precursor protein transcript by iron regulatory protein-1.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
ATP/ADP binding maintains IRP-1 in a non-IRE-binding state.
Title: Interaction of iron regulatory protein-1 (IRP-1) with ATP/ADP maintains a non-IRE-binding state.
iron regulatory protein-1-mediated inhibition of hypoxia-inducible factor-2a translation is linked to the anti-inflammatory 15-deoxy-delta12,14-prostaglandin J2
Title: The connectivity map links iron regulatory protein-1-mediated inhibition of hypoxia-inducible factor-2a translation to the anti-inflammatory 15-deoxy-delta12,14-prostaglandin J2.

Submit: New GeneRIF Correction See all (31)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Genome-wide association study to identify genetic determinants of severe asthma.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:106564	BioGRID:106710	AKT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106564	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:106564	BioGRID:125237	C12orf57	BioGRID	PubMed	Co-fractionation
BioGRID:106564	BioGRID:107883	CTPS1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106564	BioGRID:118787	DCPS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106564	BioGRID:117625	FBXL5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106564	BioGRID:114399	FUBP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106564	BioGRID:119613	HDAC7	BioGRID	PubMed	Negative Genetic
BioGRID:106564	BioGRID:113931	HIST1H2AB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106564	BioGRID:110147	LGALS1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106564	BioGRID:114179	PSMG1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106564	BioGRID:116342	STRAP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106564	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

Pathways from BioSystems

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2-Oxocarboxylic acid metabolism, organism-specific biosystem (from KEGG)
2-Oxocarboxylic acid metabolism, organism-specific biosystem2-Oxocarboxylic acids are the most elementary set of metabolites that includes pyruvate (2-oxopropanoate), 2-oxobutanoate, oxaloacetate (2-oxobutanedioate) and 2-oxoglutarate. This diagram illustrate...
2-Oxocarboxylic acid metabolism, conserved biosystem (from KEGG)
2-Oxocarboxylic acid metabolism, conserved biosystem2-Oxocarboxylic acids are the most elementary set of metabolites that includes pyruvate (2-oxopropanoate), 2-oxobutanoate, oxaloacetate (2-oxobutanedioate) and 2-oxoglutarate. This diagram illustrate...
Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
Biosynthesis of amino acids, organism-specific biosystem
Biosynthesis of amino acids
Biosynthesis of amino acids, conserved biosystem (from KEGG)
Biosynthesis of amino acids, conserved biosystem
Biosynthesis of amino acids
Citrate cycle (TCA cycle), organism-specific biosystem (from KEGG)
Citrate cycle (TCA cycle), organism-specific biosystemThe citrate cycle (TCA cycle, Krebs cycle) is an important aerobic pathway for the final steps of the oxidation of carbohydrates and fatty acids. The cycle starts with acetyl-CoA, the activated form ...
Citrate cycle (TCA cycle), conserved biosystem (from KEGG)
Citrate cycle (TCA cycle), conserved biosystemThe citrate cycle (TCA cycle, Krebs cycle) is an important aerobic pathway for the final steps of the oxidation of carbohydrates and fatty acids. The cycle starts with acetyl-CoA, the activated form ...
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarate, organism-specific biosystem (from KEGG)
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarate, conserved biosystem (from KEGG)
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Central carbohydrate metabolism
Glyoxylate and dicarboxylate metabolism, organism-specific biosystem (from KEGG)
Glyoxylate and dicarboxylate metabolism, organism-specific biosystem
Glyoxylate and dicarboxylate metabolism
Glyoxylate and dicarboxylate metabolism, conserved biosystem (from KEGG)
Glyoxylate and dicarboxylate metabolism, conserved biosystem
Glyoxylate and dicarboxylate metabolism
Iron metabolism in placenta, organism-specific biosystem (from WikiPathways)
Iron metabolism in placenta, organism-specific biosystemDuring pregnancy, iron is transported from mother to fetus across the placenta. Iron is essential for many biological processes, including the transfer of oxygen in blood, but it can also be toxic. E...
Lysine biosynthesis, organism-specific biosystem (from KEGG)
Lysine biosynthesis, organism-specific biosystem
Lysine biosynthesis
Lysine biosynthesis, conserved biosystem (from KEGG)
Lysine biosynthesis, conserved biosystem
Lysine biosynthesis
TCA cycle, organism-specific biosystem (from BIOCYC)
TCA cycle, organism-specific biosystem
TCA cycle
TCA cycle II (eukaryotic), conserved biosystem (from BIOCYC)
TCA cycle II (eukaryotic), conserved biosystemGeneral Background The TCA pathway is a catabolic pathway of aerobic respiration that generates both energy and reducing power. In addition, it is also the first step in generating precursors for bi...

General gene information

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Markers

SHGC-146792 (e-PCR)
- UniSTS:175433

RH119496 (e-PCR)
- UniSTS:133538

RH70753 (e-PCR)
- UniSTS:6365

D9S1955 (e-PCR)
- UniSTS:12766

Homology

Homologs of the ACO1 gene: The ACO1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
4 iron, 4 sulfur cluster binding	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
citrate hydro-lyase (cis-aconitate-forming) activity	IEA Inferred from Electronic Annotation more info
iron-responsive element binding	IDA Inferred from Direct Assay more info	PubMed
isocitrate hydro-lyase (cis-aconitate-forming) activity	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
citrate metabolic process	IDA Inferred from Direct Assay 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	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info
cytoplasm	NAS Non-traceable Author Statement more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cytoplasmic aconitate hydratase

Names: cytoplasmic aconitate hydratase; IRE-BP 1; aconitate hydratase; citrate hydro-lyase; iron regulatory protein 1; ferritin repressor protein; iron-responsive element binding protein 1; iron-responsive element-binding protein 1

NP_002188.1

EC 4.2.1.3

NCBI Reference Sequences (RefSeq)

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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)

NM_002197.2 → NP_002188.1 cytoplasmic aconitate hydratase

Status: REVIEWED

Source sequence(s)

BC018103, DA409113

Consensus CDS

CCDS6525.1

UniProtKB/Swiss-Prot

P21399

Related

ENSP00000309477, OTTHUMP00000021176, ENST00000309951, OTTHUMT00000051998

Conserved Domains (3) summary

cd01580
Location:670 – 839
Blast Score: 782

AcnA_IRP_Swivel; Aconitase A swivel domain. This is the major form of the TCA cycle enzyme aconitate hydratase, also known as aconitase and citrate hydro-lyase. It includes bacterial and archaeal aconitase A, and the eukaryotic cytosolic form of aconitase. This group ...

cd01586
Location:82 – 566
Blast Score: 1827

AcnA_IRP; Aconitase A catalytic domain

PTZ00092
Location:2 – 889
Blast Score: 3869

PTZ00092; aconitate hydratase-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p10 Primary Assembly

Range

32384601..32450834

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

32340337..32406624

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018920.1 Alternate CHM1_1.0

Range

32354931..32421173

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01065085.1 (10873..29521)	None
genomic	ABBA01065086.1	None
genomic	AL161783.20 (32248..98481)	None
genomic	AMYH01019319.1 (838293..904535)	None
genomic	CH471071.2	EAW58549.1
		EAW58550.1
		EAW58551.1
		EAW58552.1
genomic	DQ496106.1	ABF47095.1
mRNA	AF261088.1	AAF99681.1
mRNA	AK057904.1	None
mRNA	AK308752.1	None
mRNA	BC018103.1	AAH18103.1
mRNA	DA409113.1	None
mRNA	M58510.1	AAA69900.1
mRNA	Z11559.1	CAA77651.1
mRNA	AB209480.1	BAD92717.1