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mutLBSgeneDB |
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| Gene summary for ITPK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ITPK1 |
| Gene name | inositol-tetrakisphosphate 1-kinase | |
| Synonyms | ITRPK1 | |
| Cytomap | UCSC genome browser: 14q31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001142593.1, NM_001142594.1,NM_014216.4, | |
| Description | inositol 1,3,4-triphosphate 5/6 kinaseinositol 1,3,4-trisphosphate 5/6 kinaseinositol 1,3,4-trisphosphate 5/6-kinaseinositol-triphosphate 5/6-kinaseins(1,3,4)P(3) 5/6-kinase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601838 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100605 | ||
| HPRD : 03501 | ||
| Vega : OTTHUMG00000171226 | ||
| Protein | UniProt: Q13572 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ITPK1 | |
| BioGPS: 3705 | ||
| Pathway | NCI Pathway Interaction Database: ITPK1 | |
| KEGG: ITPK1 | ||
| REACTOME: ITPK1 | ||
| Pathway Commons: ITPK1 | ||
| Context | iHOP: ITPK1 | |
| ligand binding site mutation search in PubMed: ITPK1 | ||
| UCL Cancer Institute: ITPK1 | ||
| 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 ITPK1 |
| 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 | I155 | P153S | SKCM | 1 | R106 | R106C | UCEC | 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 ITPK1 |
| 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 | R106 | R106C | -1.4149369 | I155 | P153S | -1.3417334 |
| (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 ITPK1 from PDB |
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| Differential gene expression and gene-gene network for ITPK1 |
| 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 ITPK1 |
| 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 ITPK1 |
| 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 ITPK1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ANP | AMP-PNP | 2q7d | A | R106 I155 | ANP | AMP-PNP | 2q7d | B | R106 I155 | ADP | ADP | 2qb5 | A | R106 I155 | ADP | ADP | 2qb5 | B | R106 I155 |
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| Conservation information for LBS of ITPK1 |
| Multiple alignments for Q13572 in multiple species |
| LBS | AA sequence | # species | Species | D281 | SLFGIDIIINN | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | D281 | RLFNIDMIREH | 1 | Arabidopsis thaliana | D295 | -HAVIDINAFP | 3 | Homo sapiens, Gallus gallus, Bos taurus | D295 | VFYVIDINYFP | 1 | Arabidopsis thaliana | D295 | -HAVIDVNAFP | 1 | Mus musculus | F190 | CVVQNFINHNA | 3 | Homo sapiens, Bos taurus, Mus musculus | F190 | LVLQEFVNHGG | 1 | Arabidopsis thaliana | F190 | CVIQSFINHNA | 1 | Gallus gallus | H167 | GT-NSHEMAIV | 3 | Homo sapiens, Bos taurus, Mus musculus | H167 | GTAKSHQLYLA | 1 | Arabidopsis thaliana | H167 | GT-NSHEMAII | 1 | Gallus gallus | H193 | QNFINHNAVLY | 3 | Homo sapiens, Bos taurus, Mus musculus | H193 | QEFVNHGGVMF | 1 | Arabidopsis thaliana | H193 | QSFINHNAVLY | 1 | Gallus gallus | I155 | LAFPFICKTRV | 3 | Gallus gallus, Bos taurus, Mus musculus | I155 | LTFPFICKTRV | 1 | Homo sapiens | I155 | LKFPLVAKPLW | 1 | Arabidopsis thaliana | I191 | VVQNFINHNAV | 3 | Homo sapiens, Bos taurus, Mus musculus | I191 | VLQEFVNHGGV | 1 | Arabidopsis thaliana | I191 | VIQSFINHNAV | 1 | Gallus gallus | I283 | FGIDIIINNQT | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | I283 | FNIDMIREHGS | 1 | Arabidopsis thaliana | I294 | Q-HAVIDINAF | 3 | Homo sapiens, Gallus gallus, Bos taurus | I294 | NVFYVIDINYF | 1 | Arabidopsis thaliana | I294 | Q-HAVIDVNAF | 1 | Mus musculus | K157 | FPFICKTRVAH | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | K157 | FPLVAKPLWID | 1 | Arabidopsis thaliana | K199 | NAVLYKVFVVG | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | K199 | GGVMFKVFVVG | 1 | Arabidopsis thaliana | L197 | NHNAVLYKVFV | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | L197 | NHGGVMFKVFV | 1 | Arabidopsis thaliana | L215 | VQRPSLKNFSA | 3 | Homo sapiens, Bos taurus, Mus musculus | L215 | MRRFSLPNVSN | 1 | Arabidopsis thaliana | L215 | VKRPSLKNFSA | 1 | Gallus gallus | M169 | -NSHEMAIVFN | 3 | Homo sapiens, Bos taurus, Mus musculus | M169 | AKSHQLYLAYD | 1 | Arabidopsis thaliana | M169 | -NSHEMAIIFN | 1 | Gallus gallus | N189 | PCVVQNFINHN | 3 | Homo sapiens, Bos taurus, Mus musculus | N189 | PLVLQEFVNHG | 1 | Arabidopsis thaliana | N189 | PCVIQSFINHN | 1 | Gallus gallus | N297 | AVIDINAFPGY | 3 | Homo sapiens, Gallus gallus, Bos taurus | N297 | YVIDINYFPGY | 1 | Arabidopsis thaliana | N297 | AVIDVNAFPGY | 1 | Mus musculus | Q188 | PPCVVQNFINH | 3 | Homo sapiens, Bos taurus, Mus musculus | Q188 | PPLVLQEFVNH | 1 | Arabidopsis thaliana | Q188 | PPCVIQSFINH | 1 | Gallus gallus | R106 | RTLLDRSKSYE | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | R106 | QRIYNRQSMLQ | 1 | Arabidopsis thaliana | S214 | VVQRPSLKNFS | 3 | Homo sapiens, Bos taurus, Mus musculus | S214 | VMRRFSLPNVS | 1 | Arabidopsis thaliana | S214 | VVKRPSLKNFS | 1 | Gallus gallus | S232 | SIFFNSHNVSK | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | S232 | DGVFQFPRVSS | 1 | Arabidopsis thaliana | S236 | NSHNVSKPESS | 4 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus | S236 | QFPRVSSAAAS | 1 | Arabidopsis thaliana |
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