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mutLBSgeneDB |
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| Gene summary for PRKAA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PRKAA1 |
| Gene name | protein kinase, AMP-activated, alpha 1 catalytic subunit | |
| Synonyms | AMPK|AMPKa1 | |
| Cytomap | UCSC genome browser: 5p12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006251.5, NM_206907.3, | |
| Description | 5'-AMP-activated protein kinase catalytic subunit alpha-15'-AMP-activated protein kinase, catalytic alpha-1 chainACACA kinaseAMP -activate kinase alpha 1 subunitAMP-activated protein kinase, catalytic, alpha-1AMPK alpha 1AMPK subunit alpha-1HMGCR k | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 602739 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000132356 | ||
| HPRD : 04115 | ||
| Vega : OTTHUMG00000162269 | ||
| Protein | UniProt: Q13131 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PRKAA1 | |
| BioGPS: 5562 | ||
| Pathway | NCI Pathway Interaction Database: PRKAA1 | |
| KEGG: PRKAA1 | ||
| REACTOME: PRKAA1 | ||
| Pathway Commons: PRKAA1 | ||
| Context | iHOP: PRKAA1 | |
| ligand binding site mutation search in PubMed: PRKAA1 | ||
| UCL Cancer Institute: PRKAA1 | ||
| 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:0006468 | protein phosphorylation | 17028174 | GO:0010628 | positive regulation of gene expression | 17028174 |
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| Ligand binding site mutations for PRKAA1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A167 | A167T | COAD | 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 PRKAA1 |
| 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 | A167 | A167T | -1.1156942 |
| (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 PRKAA1 from PDB |
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| Differential gene expression and gene-gene network for PRKAA1 |
| 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 PRKAA1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0021655 | Insulin Resistance | 2 | Biomarker |
| umls:C0271650 | Glucose Intolerance | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PRKAA1 |
| 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|nutraceutical | DB00131 | Adenosine monophosphate | Small molecule |  |
| Approved|nutraceutical | DB00171 | Adenosine triphosphate | Small molecule |  |
| Approved|withdrawn | DB00914 | Phenformin | Small molecule |  |
| Approved|vet_approved | DB00945 | Acetylsalicylic acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PRKAA1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PRKAA1 |
| Multiple alignments for Q13131 in multiple species |
| LBS | AA sequence | # species | Species | A167 | MNAKIADFGLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A167 | CNVKIADFGLS | 1 | Arabidopsis thaliana | A167 | CNIKIADFGLS | 1 | Arabidopsis thaliana | A54 | TGHKVAVKILN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A54 | TGHKVAIKILN | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D168 | NAKIADFGLSN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D168 | NVKIADFGLSN | 1 | Arabidopsis thaliana | D168 | NIKIADFGLSN | 1 | Arabidopsis thaliana | E105 | IFMVMEYVSGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E105 | IYLVMEYVNSG | 1 | Arabidopsis thaliana | E105 | IYVVMEYVKSG | 1 | Arabidopsis thaliana | E111 | YVSGGELFDYI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E111 | YVNSGELFDYI | 1 | Arabidopsis thaliana | E111 | YVKSGELFDYI | 1 | Arabidopsis thaliana | E154 | RDLKPENVLLD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E154 | RDLKPENLLLD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | G110 | EYVSGGELFDY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G110 | EYVNSGELFDY | 1 | Arabidopsis thaliana | G110 | EYVKSGELFDY | 1 | Arabidopsis thaliana | G34 | LGDTLGVGTFG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G34 | LGRTLGIGSFG | 1 | Arabidopsis thaliana | G34 | LGKTLGIGSFG | 1 | Arabidopsis thaliana | G36 | DTLGVGTFGKV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G36 | RTLGIGSFGRV | 1 | Arabidopsis thaliana | G36 | KTLGIGSFGKV | 1 | Arabidopsis thaliana | K56 | HKVAVKILNRQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K56 | HKVAIKILNRR | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L157 | KPENVLLDAHM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L157 | KPENLLLDSKC | 1 | Arabidopsis thaliana | L157 | KPENLLLDSRC | 1 | Arabidopsis thaliana | L33 | ILGDTLGVGTF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L33 | KLGRTLGIGSF | 1 | Arabidopsis thaliana | L33 | KLGKTLGIGSF | 1 | Arabidopsis thaliana | M104 | DIFMVMEYVSG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M104 | DIYLVMEYVNS | 1 | Arabidopsis thaliana | M104 | DIYVVMEYVKS | 1 | Arabidopsis thaliana | N155 | DLKPENVLLDA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N155 | DLKPENLLLDS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | V107 | MVMEYVSGGEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V107 | LVMEYVNSGEL | 1 | Arabidopsis thaliana | V107 | VVMEYVKSGEL | 1 | Arabidopsis thaliana | V41 | GTFGKVKVGKH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V41 | GSFGRVKIAEH | 1 | Arabidopsis thaliana | V41 | GSFGKVKIAEH | 1 | Arabidopsis thaliana | Y106 | FMVMEYVSGGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y106 | YLVMEYVNSGE | 1 | Arabidopsis thaliana | Y106 | YVVMEYVKSGE | 1 | Arabidopsis thaliana |
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