Gene Gene information from NCBI Gene database.
Entrez ID 48
Gene name Aconitase 1
Gene symbol ACO1
Synonyms (NCBI Gene)
ACONSHEL60IREB1IREBPIREBP1IRP1
Chromosome 9
Chromosome location 9p21.1
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 4F
miRNA miRNA information provided by mirtarbase database.
362
miRTarBase ID miRNA Experiments Reference
MIRT624830 hsa-miR-5571-5p HITS-CLIP 23824327
MIRT624829 hsa-miR-660-3p HITS-CLIP 23824327
MIRT624828 hsa-miR-4722-3p HITS-CLIP 23824327
MIRT624827 hsa-miR-6727-3p HITS-CLIP 23824327
MIRT624826 hsa-miR-6747-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
MTF1 Unknown 16886906
SP1 Unknown 16886906
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0000900 Function MRNA regulatory element binding translation repressor activity EXP 1946430, 7983023, 8041788
GO:0000900 Function MRNA regulatory element binding translation repressor activity IEA
GO:0003723 Function RNA binding IDA 1946430
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding NAS 1903202
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
100880 117 ENSG00000122729
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P21399
Protein name Cytoplasmic aconitate hydratase (Aconitase) (EC 4.2.1.3) (Citrate hydro-lyase) (Ferritin repressor protein) (Iron regulatory protein 1) (IRP1) (Iron-responsive element-binding protein 1) (IRE-BP 1)
Protein function Bifunctional iron sensor that switches between 2 activities depending on iron availability (PubMed:1281544, PubMed:1946430, PubMed:8041788). Iron deprivation, promotes its mRNA binding activity through which it regulates the expression of genes
PDB 2B3X , 2B3Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00330 Aconitase 59 564 Aconitase family (aconitate hydratase) Family
PF00694 Aconitase_C 692 821 Aconitase C-terminal domain Domain
Sequence
MSNPFAHLAEPLDPVQPGKKFFNLNKLEDSRYGRLPFSIRVLLEAAIRNCDEFLVKKQDI
ENILHWNVTQHKNIEVPFKPARVILQDFTGVPAVVDFAAMRDAVKKLGGDPEKINPVCPA
DLVIDHSIQVDFNRRADSLQKNQDLEFERNRERFEFLKWGSQAFHNMRIIPPGSGIIHQV
NLEYLARVVFDQDGYYYPDSLVGTDSHTTMIDGLGILGWGVGGIEAEAVMLGQPISMVLP
QVIGYRLMGKPHPLVTSTDIVLTITKHLRQVGVVGKFVEFFGPGVAQLSIADRATIANMC
PEYGATAAFFPVDEVSITYLVQTGRDEEKLKYIKKYLQAVGMFRDFNDPSQDPDFTQVVE
LDLKTVVPCCSGPKRPQDKVAVSDMKKDFESCLGAKQGFKGFQVAPEHHNDHKTFIYDNT
EFTLAHGSVVIAAITSCTNTSNPSVMLGAGLLAKKAVDAGLNVMPYIKTSLSPGSGVVTY
YLQESGVMPYLSQLGFDVVGYGCMTCIGNSGPLPEPVVEAITQGDLVAVGVLSGNRNFEG
RVHPNTRANYLASPPLVIAYAIAG
TIRIDFEKEPLGVNAKGQQVFLKDIWPTRDEIQAVE
RQYVIPGMFKEVYQKIETVNESWNALATPSDKLFFWNSKSTYIKSPPFFENLTLDLQPPK
SIVDAYVLLNLGDSVTTDHISPAGNIARNSPAARYLTNRGLTPREFNSYGSRRGNDAVMA
RGTFANIRLLNRFLNKQAPQTIHLPSGEILDVFDAAERYQQAGLPLIVLAGKEYGAGSSR
DWAAKGPFLLGIKAVLAESYERIHRSNLVGMGVIPLEYLPG
ENADALGLTGQERYTIIIP
ENLKPQMKVQVKLDTGKTFQAVMRFDTDVELTYFLNGGILNYMIRKMAK
Sequence length 889
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Citrate cycle (TCA cycle)
Glyoxylate and dicarboxylate metabolism
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids
  Iron uptake and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 29534684
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 22331484
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27206843 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 27545647
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 26782057
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 19307463 Associate
★☆☆☆☆
Found in Text Mining only
Chuvash erythrocytosis Chuvash Erythrocytosis BEFREE 29480820
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24536049 Associate
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma BEFREE 20574843
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis CTD_human_DG 18784066
★☆☆☆☆
Found in Text Mining only