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mutLBSgeneDB |
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| Gene summary for ITPKA |
 Gene summary |
| Basic gene Info. | Gene symbol | ITPKA |
| Gene name | inositol-trisphosphate 3-kinase A | |
| Synonyms | IP3-3KA|IP3KA | |
| Cytomap | UCSC genome browser: 15q15.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002220.2, | |
| Description | IP3 3-kinase AIP3K Ainositol 1,4,5-trisphosphate 3-kinase AinsP 3-kinase A | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 147521 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137825 | ||
| HPRD : 00941 | ||
| Vega : OTTHUMG00000130343 | ||
| Protein | UniProt: P23677 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ITPKA | |
| BioGPS: 3706 | ||
| Pathway | NCI Pathway Interaction Database: ITPKA | |
| KEGG: ITPKA | ||
| REACTOME: ITPKA | ||
| Pathway Commons: ITPKA | ||
| Context | iHOP: ITPKA | |
| ligand binding site mutation search in PubMed: ITPKA | ||
| UCL Cancer Institute: ITPKA | ||
| 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 |
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| Ligand binding site mutations for ITPKA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K312 | V310I | COAD | 1 | K419 | T420I | SKCM | 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 ITPKA |
| 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 | K419 | T420I | 0.22963578 | K312 | V310I | -1.1563718 |
| (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 ITPKA from PDB |
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| Differential gene expression and gene-gene network for ITPKA |
| 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 ITPKA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ITPKA |
| 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 |
| Experimental | DB01863 | Inositol 1,3,4,5-Tetrakisphosphate | Small molecule |  |
| Experimental | DB03401 | D-Myo-Inositol-1,4,5-Triphosphate | Small molecule |  |
| Experimental | DB04395 | Phosphoaminophosphonic Acid-Adenylate Ester | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ITPKA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | I3P | 1D-MYO-INOSITOL 1,4,5-TRISPHOSPHATE | 1w2c | A | K312 K419 | I3P | 1D-MYO-INOSITOL 1,4,5-TRISPHOSPHATE | 1w2c | B | K312 K419 | 4IP | INOSITOL 1,3,4,5-TETRAKISPHOSPHATE | 1w2d | A | K312 K419 | 4IP | INOSITOL 1,3,4,5-TETRAKISPHOSPHATE | 1w2d | B | K312 K419 |
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| Conservation information for LBS of ITPKA |
| Multiple alignments for P23677 in multiple species |
| LBS | AA sequence | # species | Species | D250 | YLQLQDLLDGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D262 | GPCVLDCKMGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D416 | GVWLIDFGKTT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E333 | LGFRIEGIKKA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F198 | GHTGSFKAAGT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I415 | AGVWLIDFGKT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K209 | SGLILKRSSEP | 2 | Mus musculus, Rattus norvegicus | K209 | SGLILKRCSEP | 1 | Homo sapiens | K264 | CVLDCKMGVRT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K291 | KDMYKKMLAVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K312 | QRAVTKPRYMQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K336 | RIEGIKKADGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K419 | LIDFGKTTPLP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L251 | LQLQDLLDGFD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L401 | IGSSLLFVHDH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M288 | KLRKDMYKKML | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M316 | TKPRYMQWREG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P232 | LRGCVPAFHGV | 2 | Homo sapiens, Rattus norvegicus | P232 | LRGCVPAFHGI | 1 | Mus musculus | Q249 | SYLQLQDLLDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R285 | ERPKLRKDMYK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R319 | RYMQWREGISS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S197 | AGHTGSFKAAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y315 | VTKPRYMQWRE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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