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mutLBSgeneDB |
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| Gene summary for PRKAG1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PRKAG1 |
| Gene name | protein kinase, AMP-activated, gamma 1 non-catalytic subunit | |
| Synonyms | AMPKG | |
| Cytomap | UCSC genome browser: 12q12-q14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001206709.1, NM_001206710.1,NM_002733.4,NM_212461.1, | |
| Description | 5'-AMP-activated protein kinase subunit gamma-15'-AMP-activated protein kinase, gamma-1 subunitAMPK gamma-1 chainAMPK gamma1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602742 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000181929 | ||
| HPRD : 04118 | ||
| Vega : OTTHUMG00000170406 | ||
| Protein | UniProt: P54619 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PRKAG1 | |
| BioGPS: 5571 | ||
| Pathway | NCI Pathway Interaction Database: PRKAG1 | |
| KEGG: PRKAG1 | ||
| REACTOME: PRKAG1 | ||
| Pathway Commons: PRKAG1 | ||
| Context | iHOP: PRKAG1 | |
| ligand binding site mutation search in PubMed: PRKAG1 | ||
| UCL Cancer Institute: PRKAG1 | ||
| 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 PRKAG1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R299 | R299Q | COAD | 2 | R299 | R299Q | KICH | 1 | L277 | K278Q | KIRC | 1 | Y121 | Q123L | LUAD | 1 | S242 | S242F | SKCM | 1 | S242,I240 | Y241C | 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 PRKAG1 |
| 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 | I240 | Y241C | -1.4060361 | S242 | Y241C | -1.4060361 | R299 | R299Q | -1.0677234 | S242 | S242F | -1.0371954 | L277 | K278Q | -0.39475576 | Y121 | Q123L | -0.3436798 |
| (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 PRKAG1 from PDB |
| PDB ID | PDB title | PDB structure | 4CFE | Structure of full length human AMPK in complex with a small molecule activator, a benzimidazole derivative (991) |  |
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| Differential gene expression and gene-gene network for PRKAG1 |
| 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 PRKAG1 |
| 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 PRKAG1 |
| 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 PRKAG1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | AMP | AMP | 4cfe | E | I240 S242 L277 R299 | AMP | AMP | 4cfe | F | I240 S242 L277 R299 | AMP | AMP | 4cff | E | I240 S242 L277 R299 | AMP | AMP | 4cff | F | I240 S242 L277 R299 | AMP | AMP | 4rer | G | I240 S242 L277 R299 | AMP | AMP | 4cfe | E | Y121 | AMP | AMP | 4rer | G | Y121 |
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| Conservation information for LBS of PRKAG1 |
| Multiple alignments for P54619 in multiple species |
| LBS | AA sequence | # species | Species | A205 | TYANIAMVRTT | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | A227 | QHRVSALPVVD | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | D245 | IYSKFDVINLA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | D317 | IVSLSDILQAL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | D90 | MLTITDFINIL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | F244 | DIYSKFDVINL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | G275 | SHYFEGVLKCY | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | G84 | KQSFVGMLTIT | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | H151 | IRNKIHRLPVI | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | H298 | VEAEVHRLVVV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | I150 | LIRNKIHRLPV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | I204 | GTYANIAMVRT | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | I240 | GRVVDIYSKFD | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | I312 | DVVKGIVSLSD | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | K170 | YILTHKRILKF | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | L129 | DSFKPLVCISP | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | L228 | HRVSALPVVDE | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | L277 | YFEGVLKCYLH | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | M85 | QSFVGMLTITD | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | N203 | IGTYANIAMVR | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | P128 | QDSFKPLVCIS | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | P154 | KIHRLPVIDPE | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | P229 | RVSALPVVDEK | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R152 | RNKIHRLPVID | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R224 | IFVQHRVSALP | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R269 | KALQHRSHYFE | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R299 | EAEVHRLVVVD | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | R70 | VTNGVRAAPLW | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | S226 | VQHRVSALPVV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | S242 | VVDIYSKFDVI | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | S314 | VKGIVSLSDIL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | S316 | GIVSLSDILQA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | T200 | ELQIGTYANIA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | T87 | FVGMLTITDFI | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | T89 | GMLTITDFINI | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | V130 | SFKPLVCISPN | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | V225 | FVQHRVSALPV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | V276 | HYFEGVLKCYL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | V297 | LVEAEVHRLVV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | V313 | VVKGIVSLSDI | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | Y121 | TWREVYLQDSF | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus |
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