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mutLBSgeneDB |
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| Gene summary for IMPA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | IMPA1 |
| Gene name | inositol(myo)-1(or 4)-monophosphatase 1 | |
| Synonyms | IMP|IMPA | |
| Cytomap | UCSC genome browser: 8q21.13-q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001144878.1, NM_001144879.1,NM_005536.3, | |
| Description | D-galactose 1-phosphate phosphataseIMP 1IMPase 1inositol monophosphatase 1inositol-1(or 4)-monophosphatase 1lithium-sensitive myo-inositol monophosphatase A1 | |
| Modification date | 20141209 | |
| dbXrefs | MIM : 602064 | |
| HGNC : HGNC | ||
| HPRD : 03641 | ||
| Protein | UniProt: P29218 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_IMPA1 | |
| BioGPS: 3612 | ||
| Pathway | NCI Pathway Interaction Database: IMPA1 | |
| KEGG: IMPA1 | ||
| REACTOME: IMPA1 | ||
| Pathway Commons: IMPA1 | ||
| Context | iHOP: IMPA1 | |
| ligand binding site mutation search in PubMed: IMPA1 | ||
| UCL Cancer Institute: IMPA1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0046855 | inositol phosphate dephosphorylation | 17068342 |
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| Ligand binding site mutations for IMPA1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G164 | G164D | COAD | 1 | E213 | M214I | LUAD | 1 | G94 | G94E | PRAD | 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 IMPA1 |
| 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 | G164 | G164D | -0.70712986 | G94 | G94E | -0.62174424 | E213 | M214I | -0.55145432 |
| (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 IMPA1 from PDB |
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| Differential gene expression and gene-gene network for IMPA1 |
| 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 IMPA1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0036572 | Seizures | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for IMPA1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB01356 | Lithium | Small molecule |  |
| Experimental | DB03542 | L-Myo-Inositol-1-Phosphate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of IMPA1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PO4 | PHOSPHATE ION | 1imd | A | G94 | PO4 | PHOSPHATE ION | 1imd | B | G94 | SO4 | SULFATE | 2hhm | A | G94 | SO4 | SULFATE | 2hhm | B | G94 | IPD | INOSITOL 1-PHOSPHATE | 1awb | A | G94 E213 | IPD | INOSITOL 1-PHOSPHATE | 1awb | B | G94 E213 | IPD | INOSITOL 1-PHOSPHATE | 1ima | A | G94 E213 | IPD | INOSITOL 1-PHOSPHATE | 1ima | B | G94 E213 | LIP | L-MYO-INOSITOL-1-PHOSPHATE | 1imb | A | G94 G164 E213 | LIP | L-MYO-INOSITOL-1-PHOSPHATE | 1imb | B | G94 G164 E213 |
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| Conservation information for LBS of IMPA1 |
| Multiple alignments for P29218 in multiple species |
| LBS | AA sequence | # species | Species | A196 | RSVGTAAVNMC | 2 | Homo sapiens, Rattus norvegicus | A196 | RNLGSSAMTMA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A196 | RSAGSAAMNIC | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A196 | RMSGSCALDLC | 1 | Arabidopsis thaliana | A196 | RGVGTAALNMC | 1 | Bos taurus | D220 | IHC-WDVAGAG | 2 | Homo sapiens, Bos taurus | D220 | CYS-WDVCAGW | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D220 | CWA-WDVCAGW | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D220 | FGGPWDIAAGI | 1 | Arabidopsis thaliana | D220 | IHC-WDMAGAG | 1 | Rattus norvegicus | D41 | S--PVDLVTAT | 1 | Homo sapiens | D41 | GSRSVDIVTAI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D41 | N--GVDLVTAL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D41 | G--QVDLVTET | 1 | Arabidopsis thaliana | D41 | S--PADLVTVT | 1 | Rattus norvegicus | D41 | S--PADLVTAT | 1 | Bos taurus | D90 | PTWIIDPIDGT | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | D90 | PTFIIDPIDGT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D90 | PTFIVDPIDGT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D90 | PTWIVDPLDGT | 1 | Arabidopsis thaliana | D93 | IIDPIDGTTNF | 4 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Bos taurus | D93 | IVDPIDGTTNF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D93 | IVDPLDGTTNF | 1 | Arabidopsis thaliana | E162 | SLLVTELGSSR | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | E162 | SVVALQPGSAR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E162 | SLIALEGGSER | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E162 | ALLVTEAGTKR | 1 | Arabidopsis thaliana | E213 | ADAYYEMGIHC | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | E213 | LDSYWDGGCYS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E213 | LDAYWEGGCWA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E213 | VDIFYELGFGG | 1 | Arabidopsis thaliana | E70 | HSFIGEESVAA | 2 | Homo sapiens, Bos taurus | E70 | FKFIGEESYVK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E70 | FKFIGEETYVK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E70 | HKFIGEETTAA | 1 | Arabidopsis thaliana | E70 | HSFIGEESVAS | 1 | Rattus norvegicus | G164 | LVTELGSSRT- | 2 | Homo sapiens, Bos taurus | G164 | VALQPGSARE- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G164 | IALEGGSERTE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G164 | LVTEAGTKRD- | 1 | Arabidopsis thaliana | G164 | LVTELGSSRK- | 1 | Rattus norvegicus | G194 | GIRSVGTAAVN | 2 | Homo sapiens, Rattus norvegicus | G194 | GFRNLGSSAMT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G194 | GFRSAGSAAMN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G194 | SLRMSGSCALD | 1 | Arabidopsis thaliana | G194 | GIRGVGTAALN | 1 | Bos taurus | G94 | IDPIDGTTNFV | 4 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Bos taurus | G94 | VDPIDGTTNFI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G94 | VDPLDGTTNFV | 1 | Arabidopsis thaliana | I216 | YYEMGIHC-WD | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | I216 | YWDGGCYS-WD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I216 | YWEGGCWA-WD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I216 | FYELGFGGPWD | 1 | Arabidopsis thaliana | I92 | WIIDPIDGTTN | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | I92 | FIIDPIDGTTN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I92 | FIVDPIDGTTN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I92 | WIVDPLDGTTN | 1 | Arabidopsis thaliana | L42 | --PVDLVTATD | 1 | Homo sapiens | L42 | SRSVDIVTAID | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L42 | --GVDLVTALD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L42 | --QVDLVTETD | 1 | Arabidopsis thaliana | L42 | --PADLVTVTD | 1 | Rattus norvegicus | L42 | --PADLVTATD | 1 | Bos taurus | S165 | VTELGSSRT-- | 2 | Homo sapiens, Bos taurus | S165 | ALQPGSARE-- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S165 | ALEGGSERTEG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S165 | VTEAGTKRD-- | 1 | Arabidopsis thaliana | S165 | VTELGSSRK-- | 1 | Rattus norvegicus | T195 | IRSVGTAAVNM | 2 | Homo sapiens, Rattus norvegicus | T195 | FRNLGSSAMTM | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T195 | FRSAGSAAMNI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T195 | LRMSGSCALDL | 1 | Arabidopsis thaliana | T195 | IRGVGTAALNM | 1 | Bos taurus | T95 | DPIDGTTNFVH | 4 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Rattus norvegicus, Bos taurus | T95 | DPIDGTTNFIH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T95 | DPLDGTTNFVH | 1 | Arabidopsis thaliana |
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