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ACO1 (aconitase 1, soluble)

Identity

Other namesACONS
HEL60
IREB1
IREBP
IREBP1
IRP1
HGNC (Hugo) ACO1
LocusID (NCBI) 48
Location 9p21.1
Location_base_pair Starts at 32384601 and ends at 32450832 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)ACO1   117
Cards
Entrez_Gene (NCBI)ACO1  48  aconitase 1, soluble
GeneCards (Weizmann)ACO1
Ensembl (Hinxton)ENSG00000122729 [Gene_View]  chr9:32384601-32450832 [Contig_View]  ACO1 [Vega]
ICGC DataPortalENSG00000122729
cBioPortalACO1
AceView (NCBI)ACO1
Genatlas (Paris)ACO1
WikiGenes48
SOURCE (Princeton)NM_001278352 NM_002197
Genomic and cartography
GoldenPath (UCSC)ACO1  -  9p21.1   chr9:32384601-32450832 +  9p21.1   [Description]    (hg19-Feb_2009)
EnsemblACO1 - 9p21.1 [CytoView]
Mapping of homologs : NCBIACO1 [Mapview]
OMIM100880   
Gene and transcription
Genbank (Entrez)AB209480 AF261088 AK057904 AK308752 BC018103
RefSeq transcript (Entrez)NM_001278352 NM_002197
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NT_008413 NW_001839149 NW_004929342
Consensus coding sequences : CCDS (NCBI)ACO1
Cluster EST : UnigeneHs.567229 [ NCBI ]
CGAP (NCI)Hs.567229
Alternative Splicing : Fast-db (Paris)GSHG0030060
Alternative Splicing GalleryENSG00000122729
Gene ExpressionACO1 [ NCBI-GEO ]     ACO1 [ SEEK ]   ACO1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21399 (Uniprot)
NextProtP21399  [Medical]
With graphics : InterProP21399
Splice isoforms : SwissVarP21399 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)ACONITASE_1 (PS00450)    ACONITASE_2 (PS01244)   
Domains : Interpro (EBI)Acnase/IPM_dHydase_lsu_aba_1/3 [organisation]   Acoase/IPM_deHydtase [organisation]   Acoase/IPM_deHydtase_lsu_aba [organisation]   Aconitase/3IPM_dehydase_swvl [organisation]   Aconitase/Fe_reg_prot_2 [organisation]   Aconitase/IPMdHydase_lsu_aba_2 [organisation]   Aconitase_4Fe-4S_BS [organisation]   AconitaseA/IPMdHydase_ssu_swvl [organisation]  
Related proteins : CluSTrP21399
Domain families : Pfam (Sanger)Aconitase (PF00330)    Aconitase_C (PF00694)   
Domain families : Pfam (NCBI)pfam00330    pfam00694   
DMDM Disease mutations48
Blocks (Seattle)P21399
PDB (SRS)2B3X    2B3Y   
PDB (PDBSum)2B3X    2B3Y   
PDB (IMB)2B3X    2B3Y   
PDB (RSDB)2B3X    2B3Y   
Human Protein AtlasENSG00000122729 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP21399
HPRD00013
IPIIPI00008485   IPI00930318   IPI01011965   IPI00643595   
Protein Interaction databases
DIP (DOE-UCLA)P21399
IntAct (EBI)P21399
FunCoupENSG00000122729
BioGRIDACO1
InParanoidP21399
Interologous Interaction database P21399
IntegromeDBACO1
STRING (EMBL)ACO1
Ontologies - Pathways
Ontology : AmiGORNA binding  RNA binding  aconitate hydratase activity  protein binding  cytoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  Golgi apparatus  cytosol  tricarboxylic acid cycle  citrate metabolic process  regulation of translation  cellular iron ion homeostasis  post-embryonic development  response to iron(II) ion  iron-responsive element binding  metal ion binding  intestinal absorption  4 iron, 4 sulfur cluster binding  extracellular vesicular exosome  
Ontology : EGO-EBIRNA binding  RNA binding  aconitate hydratase activity  protein binding  cytoplasm  cytoplasm  mitochondrion  endoplasmic reticulum  Golgi apparatus  cytosol  tricarboxylic acid cycle  citrate metabolic process  regulation of translation  cellular iron ion homeostasis  post-embryonic development  response to iron(II) ion  iron-responsive element binding  metal ion binding  intestinal absorption  4 iron, 4 sulfur cluster binding  extracellular vesicular exosome  
Pathways : KEGGCitrate cycle (TCA cycle)    Glyoxylate and dicarboxylate metabolism   
Protein Interaction DatabaseACO1
Wikipedia pathwaysACO1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACO1
snp3D : Map Gene to Disease48
SNP (GeneSNP Utah)ACO1
SNP : HGBaseACO1
Genetic variants : HAPMAPACO1
Exome VariantACO1
1000_GenomesACO1 
ICGC programENSG00000122729 
Somatic Mutations in Cancer : COSMICACO1 
CONAN: Copy Number AnalysisACO1 
Mutations and Diseases : HGMDACO1
Mutations and Diseases : intOGenACO1
Genomic VariantsACO1  ACO1 [DGVbeta]
dbVarACO1
ClinVarACO1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM100880   
MedgenACO1
GENETestsACO1
Disease Genetic AssociationACO1
Huge Navigator ACO1 [HugePedia]  ACO1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneACO1
Homology/Alignments : Family Browser (UCSC)ACO1
Phylogenetic Trees/Animal Genes : TreeFamACO1
Chemical/Protein Interactions : CTD48
Chemical/Pharm GKB GenePA24442
Clinical trialACO1
Cancer Resource (Charite)ENSG00000122729
Other databases
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
CoreMineACO1
iHOPACO1
OncoSearchACO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:37:05 CEST 2014

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