ACO1 aconitase 1, soluble [Homo sapiens] - Gene

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Summary

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]

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Genomic context

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

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

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.
This study shows that expression of the transferrin receptor (TfR) is downregulated, whereas expression of the ferritin heavy chain is upregulated in Chlamydia trachomatis infected HeLa-229 cells.
Title: Chlamydia trachomatis alters iron-regulatory protein-1 binding capacity and modulates cellular iron homeostasis in HeLa-229 cells.
Expression of TfR1 mRNA is increased when maternal iron deficiency progressed while there is no change in the expression of IRP1 mRNA in the placenta.
Title: [The expression of TfR1 mRNA and IRP1 mRNA in the placenta from different maternal iron status].
Downregulated by HBX in human hepatoma cell lines.
Title: HBx modulates iron regulatory protein 1-mediated iron metabolism via reactive oxygen species.

Submit: New GeneRIF Correction See all (28)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:106564	BioGRID:117625	FBXL5		BioGRID	PubMed	Affinity Capture-Western
BioGRID:106564	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

Function	Evidence Code	Pubs
4 iron, 4 sulfur cluster binding	IDA Inferred from Direct Assay more info	PubMed
4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
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
aconitate hydratase activity	IEA Inferred from Electronic Annotation more info
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
iron-responsive element binding	IEA Inferred from Electronic Annotation more info
isocitrate hydro-lyase (cis-aconitate-forming) activity	IEA Inferred from Electronic Annotation more info
lyase activity	IEA Inferred from Electronic Annotation more info
mRNA 5'-UTR binding	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
metabolic process	IEA Inferred from Electronic Annotation more info
post-embryonic development	IEA Inferred from Electronic Annotation more info
regulation of gene expression	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
Golgi apparatus	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	NAS Non-traceable Author Statement more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
microsome	IEA Inferred from Electronic Annotation more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
soluble fraction	IEA Inferred from Electronic Annotation more info

General protein information

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

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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)

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 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)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL161783.20	CAH72598.1
		CAH72599.1
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

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P21399.3	GenPept	UniProtKB/Swiss-Prot:P21399
Q59FI0	GenPept	UniProtKB/TrEMBL:Q59FI0
Q5VZA6	GenPept	UniProtKB/TrEMBL:Q5VZA6
Q9HBB2	GenPept	UniProtKB/TrEMBL:Q9HBB2