Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
48
Gene name Gene Name - the full gene name approved by the HGNC.
Aconitase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACO1
Synonyms (NCBI Gene) Gene synonyms aliases
ACONS, HEL60, IREB1, IREBP, IREBP1, IRP1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
MTF1 Unknown 16886906
SP1 Unknown 16886906
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IDA 1946430
GO:0003723 Function RNA binding NAS 1903202
GO:0003994 Function Aconitate hydratase activity IBA 21873635
GO:0003994 Function Aconitate hydratase activity IDA 1946430, 8041788
GO:0003994 Function Aconitate hydratase activity IMP 1281544
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
100880 117 ENSG00000122729
Protein
UniProt ID 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma GWAS
Psoriasis Psoriasis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 27206843
Carcinoma Hepatocellular Associate 19307463
Chromosome Breakage Inhibit 23155415
Colorectal Neoplasms Associate 24536049
Death Associate 26755275
Drug Related Side Effects and Adverse Reactions Associate 12052872
Endometrial Neoplasms Associate 34170849
Friedreich Ataxia Associate 18424449
Glycogen Storage Disease Type II Associate 22331484
Graves Ophthalmopathy Associate 39735537