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mutLBSgeneDB |
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| Gene summary for RPS6KA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RPS6KA1 |
| Gene name | ribosomal protein S6 kinase, 90kDa, polypeptide 1 | |
| Synonyms | HU-1|MAPKAPK1A|RSK|RSK1|p90Rsk | |
| Cytomap | UCSC genome browser: 1p | |
| Type of gene | protein-coding | |
| RefGenes | NM_001006665.1, NM_002953.3, | |
| Description | 90 kDa ribosomal protein S6 kinase 1MAP kinase-activated protein kinase 1aMAPK-activated protein kinase 1aMAPKAP kinase 1aMAPKAPK-1aRSK-1S6K-alpha 1S6K-alpha-1dJ590P13.1 (ribosomal protein S6 kinase, 90kD, polypeptide 1)p90-RSK 1p90RSK1p90S6Kr | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601684 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000117676 | ||
| HPRD : 03402 | ||
| Vega : OTTHUMG00000004003 | ||
| Protein | UniProt: Q15418 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RPS6KA1 | |
| BioGPS: 6195 | ||
| Pathway | NCI Pathway Interaction Database: RPS6KA1 | |
| KEGG: RPS6KA1 | ||
| REACTOME: RPS6KA1 | ||
| Pathway Commons: RPS6KA1 | ||
| Context | iHOP: RPS6KA1 | |
| ligand binding site mutation search in PubMed: RPS6KA1 | ||
| UCL Cancer Institute: RPS6KA1 | ||
| 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:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 18402937 |
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| Ligand binding site mutations for RPS6KA1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D148 | D148V | STAD | 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 RPS6KA1 |
| 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 | D148 | D148V | -0.46296634 |
| (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 RPS6KA1 from PDB |
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| Differential gene expression and gene-gene network for RPS6KA1 |
| 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 RPS6KA1 |
| 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 RPS6KA1 |
| 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 | DB04751 | Purvalanol A | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RPS6KA1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | STU | STAUROSPORINE | 2z7r | A | D148 | P01 | PURVALANOL A | 2z7s | A | D148 |
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| Conservation information for LBS of RPS6KA1 |
| Multiple alignments for Q15418 in multiple species |
| LBS | AA sequence | # species | Species | A92 | SGHLYAMKVLK | 1 | Homo sapiens | A92 | SGHVYAMKVLK | 1 | Caenorhabditis elegans | A92 | SNHLYAMKVLK | 1 | Gallus gallus | A92 | NGHLYAMKVLK | 1 | Rattus norvegicus | D142 | LYLILDFLRGG | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | D148 | FLRGGDLFTRL | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | D205 | HIKLTDFGLSK | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | D205 | HIKVTDFGLSK | 1 | Caenorhabditis elegans | E191 | RDLKPENILLD | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | F143 | YLILDFLRGGD | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | G147 | DFLRGGDLFTR | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | G69 | LLKVLGQGSFG | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | G71 | KVLGQGSFGKV | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | K189 | IYRDLKPENIL | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | K189 | VYRDLKPENIL | 1 | Caenorhabditis elegans | K94 | HLYAMKVLKKA | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | K94 | HVYAMKVLKKA | 1 | Caenorhabditis elegans | L141 | KLYLILDFLRG | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | L144 | LILDFLRGGDL | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | L194 | KPENILLDEEG | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | L194 | KPENILLDADG | 1 | Caenorhabditis elegans | L68 | ELLKVLGQGSF | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | N192 | DLKPENILLDE | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | N192 | DLKPENILLDA | 1 | Caenorhabditis elegans | Q70 | LKVLGQGSFGK | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | R145 | ILDFLRGGDLF | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | S72 | VLGQGSFGKVF | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus | T204 | GHIKLTDFGLS | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | T204 | GHIKVTDFGLS | 1 | Caenorhabditis elegans | V125 | NHPFVVKLHYA | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | V125 | SHPFIVKLHYA | 1 | Caenorhabditis elegans | V76 | GSFGKVFLVRK | 4 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Rattus norvegicus |
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