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mutLBSgeneDB |
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| Gene summary for ACO1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACO1 |
| Gene name | aconitase 1, soluble | |
| Synonyms | ACONS|HEL60|IREB1|IREBP|IREBP1|IRP1 | |
| Cytomap | UCSC genome browser: 9p21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001278352.1, NM_002197.2, | |
| Description | IRE-BP 1aconitate hydratase, cytoplasmiccitrate hydro-lyasecytoplasmic aconitate hydrataseepididymis luminal protein 60ferritin repressor proteiniron regulatory protein 1iron-responsive element binding protein 1iron-responsive element-binding prot | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 100880 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000122729 | ||
| HPRD : 00013 | ||
| Vega : OTTHUMG00000019740 | ||
| Protein | UniProt: P21399 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACO1 | |
| BioGPS: 48 | ||
| Pathway | NCI Pathway Interaction Database: ACO1 | |
| KEGG: ACO1 | ||
| REACTOME: ACO1 | ||
| Pathway Commons: ACO1 | ||
| Context | iHOP: ACO1 | |
| ligand binding site mutation search in PubMed: ACO1 | ||
| UCL Cancer Institute: ACO1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006101 | citrate metabolic process | 16527810 | GO:0010040 | response to iron(II) ion | 8041788 |
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| Ligand binding site mutations for ACO1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H207 | T209A | HNSC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for ACO1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | H207 | T209A | -1.3031101 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ACO1 from PDB |
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| Differential gene expression and gene-gene network for ACO1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ACO1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACO1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACO1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SF4 | TETRA-MU3-SULFIDO-TETRAIRON | 2b3x | A | H207 | SF4 | TETRA-MU3-SULFIDO-TETRAIRON | 2b3y | A | H207 | SF4 | TETRA-MU3-SULFIDO-TETRAIRON | 2b3y | B | H207 |
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| Conservation information for LBS of ACO1 |
| Multiple alignments for P21399 in multiple species |
| LBS | AA sequence | # species | Species | C437 | AAITSCTNTSN | 8 | Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | C503 | VVGYGCMTCIG | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | C503 | IVGYGCTTCIG | 2 | Arabidopsis thaliana, Arabidopsis thaliana | C503 | IAGYGCMTCIG | 1 | Caenorhabditis elegans | C506 | YGCMTCIGNSG | 6 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | C506 | YGCTTCIGNSG | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D205 | SLVGTDSHTTM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D205 | SVVGTDSHTTM | 4 | Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Gallus gallus | H126 | DLVIDHSIQVD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | H126 | DLVIDHSVQVD | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans | H126 | DLVIDHSIQVH | 1 | Rattus norvegicus | H178 | GSGIIHQVNLE | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | H178 | GSGIVHQVNLE | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans | H207 | VGTDSHTTMID | 7 | Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | H207 | VGTDSHTTMVD | 1 | Gallus gallus | I176 | PPGSGIIHQVN | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | I176 | PPGSGIVHQVN | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans | I177 | PGSGIIHQVNL | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | I177 | PGSGIVHQVNL | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans | I507 | GCMTCIGNSGP | 6 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | I507 | GCTTCIGNSGD | 1 | Arabidopsis thaliana | I507 | GCTTCIGNSGE | 1 | Arabidopsis thaliana | N535 | GVLSGNRNFEG | 6 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | N535 | AVLSGNRNFEG | 2 | Arabidopsis thaliana, Arabidopsis thaliana | S436 | IAAITSCTNTS | 8 | Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus |
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