Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACO1 (aconitase 1)

Identity

Alias (NCBI)ACONS
HEL60
IREB1
IREBP
IREBP1
IRP1
HGNC (Hugo) ACO1
HGNC Alias symbIRP1
IREBP
HGNC Alias nameaconitate hydratase, cytoplasmic
 soluble aconitase
 cytosplasmic aconitase
HGNC Previous nameIREB1
HGNC Previous nameaconitase 1, soluble
LocusID (NCBI) 48
Atlas_Id 47648
Location 9p21.1  [Link to chromosome band 9p21]
Location_base_pair Starts at 32384643 and ends at 32454768 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACO1 (9p21.1) / ACO1 (9p21.1)ACO1 (9p21.1) / APTX (9p21.1)ACO1 (9p21.1) / TYRP1 (9p23)
ARL3 (10q24.32) / ACO1 (9p21.1)ITPK1 (14q32.12) / ACO1 (9p21.1)NFX1 (9p13.3) / ACO1 (9p21.1)
ACO1 9p21.1 / TYRP1 9p23ITPK1 14q32.12 / ACO1 9p21.1NFX1 9p13.3 / ACO1 9p21.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(9;9)(p13;p21) NFX1/ACO1
t(9;9)(p21;p23) ACO1/TYRP1
t(9;10)(p21;q24) ARL3/ACO1
t(9;14)(p21;q32) ITPK1/ACO1


External links

Nomenclature
HGNC (Hugo)ACO1   117
Cards
Entrez_Gene (NCBI)ACO1    aconitase 1
AliasesACONS; HEL60; IREB1; IREBP; 
IREBP1; IRP1
GeneCards (Weizmann)ACO1
Ensembl hg19 (Hinxton)ENSG00000122729 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122729 [Gene_View]  ENSG00000122729 [Sequence]  chr9:32384643-32454768 [Contig_View]  ACO1 [Vega]
ICGC DataPortalENSG00000122729
TCGA cBioPortalACO1
AceView (NCBI)ACO1
Genatlas (Paris)ACO1
SOURCE (Princeton)ACO1
Genetics Home Reference (NIH)ACO1
Genomic and cartography
GoldenPath hg38 (UCSC)ACO1  -     chr9:32384643-32454768 +  9p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACO1  -     9p21.1   [Description]    (hg19-Feb_2009)
GoldenPathACO1 - 9p21.1 [CytoView hg19]  ACO1 - 9p21.1 [CytoView hg38]
ImmunoBaseENSG00000122729
genome Data Viewer NCBIACO1 [Mapview hg19]  
OMIM100880   
Gene and transcription
Genbank (Entrez)AB209480 AF261088 AK057904 AK308752 BC018103
RefSeq transcript (Entrez)NM_001278352 NM_001362840 NM_002197
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACO1
Alternative Splicing GalleryENSG00000122729
Gene ExpressionACO1 [ NCBI-GEO ]   ACO1 [ EBI - ARRAY_EXPRESS ]   ACO1 [ SEEK ]   ACO1 [ MEM ]
Gene Expression Viewer (FireBrowse)ACO1 [ Firebrowse - Broad ]
GenevisibleExpression of ACO1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)48
GTEX Portal (Tissue expression)ACO1
Human Protein AtlasENSG00000122729-ACO1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21399   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21399  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21399
Splice isoforms : SwissVarP21399
Catalytic activity : Enzyme4.2.1.3 [ Enzyme-Expasy ]   4.2.1.34.2.1.3 [ IntEnz-EBI ]   4.2.1.3 [ BRENDA ]   4.2.1.3 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP21399
Domaine pattern : Prosite (Expaxy)ACONITASE_1 (PS00450)    ACONITASE_2 (PS01244)   
Domains : Interpro (EBI)Acnase/IPM_dHydase_lsu_aba_1/3    Acoase/IPM_deHydtase_lsu_aba    Aconitase/3IPM_dehydase_swvl    Aconitase/IRP2    Aconitase_4Fe-4S_BS    Aconitase_4Fe-4S_dom    AconitaseA/IPMdHydase_ssu_swvl    IRE-BP1   
Domain families : Pfam (Sanger)Aconitase (PF00330)    Aconitase_C (PF00694)   
Domain families : Pfam (NCBI)pfam00330    pfam00694   
Conserved Domain (NCBI)ACO1
Blocks (Seattle)ACO1
PDB (RSDB)2B3X    2B3Y   
PDB Europe2B3X    2B3Y   
PDB (PDBSum)2B3X    2B3Y   
PDB (IMB)2B3X    2B3Y   
Structural Biology KnowledgeBase2B3X    2B3Y   
SCOP (Structural Classification of Proteins)2B3X    2B3Y   
CATH (Classification of proteins structures)2B3X    2B3Y   
SuperfamilyP21399
Human Protein Atlas [tissue]ENSG00000122729-ACO1 [tissue]
Peptide AtlasP21399
HPRD00013
IPIIPI00008485   IPI00930318   IPI01011965   IPI00643595   
Protein Interaction databases
DIP (DOE-UCLA)P21399
IntAct (EBI)P21399
BioGRIDACO1
STRING (EMBL)ACO1
ZODIACACO1
Ontologies - Pathways
QuickGOP21399
Ontology : AmiGORNA binding  RNA binding  aconitate hydratase activity  aconitate hydratase activity  aconitate hydratase activity  protein binding  cytoplasm  cytoplasm  mitochondrion  mitochondrion  endoplasmic reticulum  Golgi apparatus  cytosol  cytosol  cytosol  tricarboxylic acid cycle  citrate metabolic process  citrate metabolic process  citrate metabolic process  regulation of translation  cellular iron ion homeostasis  post-embryonic development  response to iron(II) ion  iron-responsive element binding  iron-responsive element binding  iron-responsive element binding  metal ion binding  citrate dehydratase activity  intestinal absorption  3 iron, 4 sulfur cluster binding  3 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  extracellular exosome  
Ontology : EGO-EBIRNA binding  RNA binding  aconitate hydratase activity  aconitate hydratase activity  aconitate hydratase activity  protein binding  cytoplasm  cytoplasm  mitochondrion  mitochondrion  endoplasmic reticulum  Golgi apparatus  cytosol  cytosol  cytosol  tricarboxylic acid cycle  citrate metabolic process  citrate metabolic process  citrate metabolic process  regulation of translation  cellular iron ion homeostasis  post-embryonic development  response to iron(II) ion  iron-responsive element binding  iron-responsive element binding  iron-responsive element binding  metal ion binding  citrate dehydratase activity  intestinal absorption  3 iron, 4 sulfur cluster binding  3 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster binding  extracellular exosome  
Pathways : KEGGCitrate cycle (TCA cycle)    Glyoxylate and dicarboxylate metabolism   
NDEx NetworkACO1
Atlas of Cancer Signalling NetworkACO1
Wikipedia pathwaysACO1
Orthology - Evolution
OrthoDB48
GeneTree (enSembl)ENSG00000122729
Phylogenetic Trees/Animal Genes : TreeFamACO1
HOGENOMP21399
Homologs : HomoloGeneACO1
Homology/Alignments : Family Browser (UCSC)ACO1
Gene fusions - Rearrangements
Fusion : MitelmanACO1/TYRP1 [9p21.1/9p23]  
Fusion : MitelmanARL3/ACO1 [10q24.32/9p21.1]  
Fusion : MitelmanITPK1/ACO1 [14q32.12/9p21.1]  
Fusion : MitelmanNFX1/ACO1 [9p13.3/9p21.1]  
Fusion PortalACO1 9p21.1 TYRP1 9p23 BRCA
Fusion PortalITPK1 14q32.12 ACO1 9p21.1 BRCA
Fusion PortalNFX1 9p13.3 ACO1 9p21.1 LUSC
Fusion : QuiverACO1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACO1 [hg38]
dbVarACO1
ClinVarACO1
MonarchACO1
1000_GenomesACO1 
Exome Variant ServerACO1
GNOMAD BrowserENSG00000122729
Varsome BrowserACO1
Genomic Variants (DGV)ACO1 [DGVbeta]
DECIPHERACO1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACO1 
Mutations
ICGC Data PortalACO1 
TCGA Data PortalACO1 
Broad Tumor PortalACO1
OASIS PortalACO1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACO1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACO1
Mutations and Diseases : HGMDACO1
intOGen PortalACO1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ACO1
DgiDB (Drug Gene Interaction Database)ACO1
DoCM (Curated mutations)ACO1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACO1 (select a term)
intoGenACO1
Cancer3DACO1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM100880   
Orphanet
DisGeNETACO1
MedgenACO1
Genetic Testing Registry ACO1
NextProtP21399 [Medical]
GENETestsACO1
Target ValidationACO1
Huge Navigator ACO1 [HugePedia]
ClinGenACO1
Clinical trials, drugs, therapy
MyCancerGenomeACO1
Protein Interactions : CTD
Pharm GKB GenePA24442
Pharm GKB PathwaysPA165292164   
PharosP21399
Clinical trialACO1
Miscellaneous
canSAR (ICR)ACO1 (select the gene name)
HarmonizomeACO1
DataMed IndexACO1
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXACO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:04:12 CET 2021

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