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mutLBSgeneDB |
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| Gene summary for PCK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PCK1 |
| Gene name | phosphoenolpyruvate carboxykinase 1 (soluble) | |
| Synonyms | PEPCK-C|PEPCK1|PEPCKC | |
| Cytomap | UCSC genome browser: 20q13.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002591.3, | |
| Description | PEP carboxykinasephosphoenolpyruvate carboxykinase, cytosolicphosphoenolpyruvate carboxykinase, cytosolic [GTP]phosphoenolpyruvate carboxylasephosphopyruvate carboxylase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 614168 | |
| HGNC : HGNC | ||
| HPRD : 02028 | ||
| Protein | UniProt: P35558 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PCK1 | |
| BioGPS: 5105 | ||
| Pathway | NCI Pathway Interaction Database: PCK1 | |
| KEGG: PCK1 | ||
| REACTOME: PCK1 | ||
| Pathway Commons: PCK1 | ||
| Context | iHOP: PCK1 | |
| ligand binding site mutation search in PubMed: PCK1 | ||
| UCL Cancer Institute: PCK1 | ||
| 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:0006475 | internal protein amino acid acetylation | 20167786 | GO:0032868 | response to insulin | 14764811 |
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| Ligand binding site mutations for PCK1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G529 | G529V | COAD | 1 | G289 | G289W | LUAD | 1 | D311 | D311N | LUAD | 1 | N403,R405 | S404L | LUAD | 1 | A287 | A287S | LUAD | 1 | G289 | G289W | LUSC | 1 | F333 | F333L | LUSC | 1 | F333 | G334C | LUSC | 1 | G289 | G289R | SKCM | 1 | R87 | E89K | SKCM | 1 | K342 | S340L | SKCM | 1 | N403 | P402S | SKCM | 1 | A287 | A287T | 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 PCK1 |
| 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 | K342 | S340L | 0.038908506 | R87 | E89K | -1.1283789 | A287 | A287S | -0.99200931 | D311 | D311N | -0.97375788 | A287 | A287T | -0.86393882 | N403 | P402S | -0.70377062 | G529 | G529V | -0.61018472 | G289 | G289R | -0.41469418 | F333 | G334C | -0.40625695 | G289 | G289W | -0.35787702 | R405 | S404L | -0.25454209 | N403 | S404L | -0.25454209 | F333 | F333L | -0.15759556 |
| (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 PCK1 from PDB |
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| Differential gene expression and gene-gene network for PCK1 |
| 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 PCK1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0028754 | Obesity | 3 | Biomarker |
| umls:C0011853 | Diabetes Mellitus, Experimental | 2 | Biomarker |
| umls:C2239176 | Carcinoma, Hepatocellular | 1 | Biomarker |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PCK1 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB01819 | Phosphoenolpyruvate | Small molecule |  |
| Experimental | DB02008 | 1-(2-Fluorobenzyl)-3-Butyl-8-(N-Acetyl-4-Aminobenzyl)-Xanthine | Small molecule |  |
| Experimental | DB03267 | 1-Allyl-3-Butyl-8-(N-Acetyl-4-Aminobenzyl)-Xanthine | Small molecule |  |
| Experimental | DB03725 | Phosphomethylphosphonic Acid-Guanylate Ester | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PCK1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FTB | 1-(2-FLUOROBENZYL)-3-BUTYL-8-(N-ACETYL-4-AMINOBENZYL)-XANTHINE | 1nhx | A | A287 G289 G529 | UN8 | N-(4-{[3-BUTYL-1-(2-FLUOROBENZYL)-2,6-DIOXO-2,3,6,7-TETRAHYDRO-1H-PURIN-8-YL]METHYL}PHENYL)-1-METHYL-1H-IMIDAZOLE-4-SULFONAMIDE | 2gmv | A | A287 G289 K342 | MN | MANGANESE(2+) | 1khb | A | D311 | MN | MANGANESE(2+) | 1khe | A | D311 | MN | MANGANESE(2+) | 1khf | A | D311 | MN | MANGANESE(2+) | 1khg | A | D311 | MN | MANGANESE(2+) | 1m51 | A | D311 | MN | MANGANESE(2+) | 1nhx | A | D311 | MN | MANGANESE(2+) | 2gmv | A | D311 | MN | MANGANESE(2+) | 2gmv | B | D311 | TSX | 1-ALLYL-3-BUTYL-8-(N-ACETYL-4-AMINOBENZYL)-XANTHINE | 1m51 | A | G289 G529 | PEP | PHOSPHOENOLPYRUVATE | 2gmv | A | R87 F333 N403 R405 | PEP | PHOSPHOENOLPYRUVATE | 1khf | A | R87 N403 R405 | PEP | PHOSPHOENOLPYRUVATE | 1nhx | A | R87 N403 R405 | PEP | PHOSPHOENOLPYRUVATE | 2gmv | B | R87 N403 R405 |
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| Conservation information for LBS of PCK1 |
| Multiple alignments for P35558 in multiple species |
| LBS | AA sequence | # species | Species | A287 | AAFPSACGKTN | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | A86 | DPRDVARIESK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A86 | NPRDVARIESK | 1 | Gallus gallus | C288 | AFPSACGKTNL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | D310 | VECVGDDIAWM | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D310 | IECVGDDIAWM | 1 | Gallus gallus | D311 | ECVGDDIAWMK | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | F333 | PENGFFGVAPG | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | F485 | FAMRPFFGYNF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | F485 | FAMGPFFGYNF | 1 | Bos taurus | F517 | FHVNWFRKDKE | 1 | Homo sapiens | F517 | FHVNWFRKDSQ | 1 | Gallus gallus | F517 | FHVNWFRKDKA | 1 | Bos taurus | F517 | FHVNWFRKDKD | 1 | Mus musculus | F517 | FHVNWFRKDKN | 1 | Rattus norvegicus | F525 | DKEGKFLWPGF | 1 | Homo sapiens | F525 | DSQGKFLWPGY | 1 | Gallus gallus | F525 | DKAGRFLWPGF | 1 | Bos taurus | F525 | DKDGKFLWPGF | 1 | Mus musculus | F525 | DKNGKFLWPGF | 1 | Rattus norvegicus | F530 | FLWPGFGENSR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F530 | FLWPGYGENSR | 1 | Gallus gallus | G236 | FGSGYGGNSLL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G237 | GSGYGGNSLLG | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G289 | FPSACGKTNLA | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | G529 | KFLWPGFGENS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G529 | KFLWPGYGENS | 1 | Gallus gallus | G529 | RFLWPGFGENS | 1 | Bos taurus | K244 | SLLGKKCFALR | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K290 | PSACGKTNLAM | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K342 | PGTSVKTNPNA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K342 | PGTSIKTNPNA | 1 | Gallus gallus | K342 | PGTSVRTNPNA | 1 | Bos taurus | L293 | CGKTNLAMMNP | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | M296 | TNLAMMNPSLP | 2 | Homo sapiens, Mus musculus | M296 | TNLAMMNPTLP | 2 | Bos taurus, Rattus norvegicus | M296 | TNLAMMNPSRP | 1 | Gallus gallus | N292 | ACGKTNLAMMN | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | N403 | PCAHPNSRFCT | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | N533 | PGFGENSRVLE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N533 | PGYGENSRVLE | 1 | Gallus gallus | P528 | GKFLWPGFGEN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P528 | GKFLWPGYGEN | 1 | Gallus gallus | P528 | GRFLWPGFGEN | 1 | Bos taurus | R405 | AHPNSRFCTPA | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | R436 | IIFGGRRPAGV | 3 | Homo sapiens, Gallus gallus, Rattus norvegicus | R436 | IIFGGRRPVGV | 1 | Bos taurus | R436 | IIFGGRRPEGV | 1 | Mus musculus | R87 | PRDVARIESKT | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | T291 | SACGKTNLAMM | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | T343 | GTSVKTNPNAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T343 | GTSIKTNPNAI | 1 | Gallus gallus | T343 | GTSVRTNPNAI | 1 | Bos taurus | W516 | IFHVNWFRKDK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W516 | IFHVNWFRKDS | 1 | Gallus gallus | W527 | EGKFLWPGFGE | 1 | Homo sapiens | W527 | QGKFLWPGYGE | 1 | Gallus gallus | W527 | AGRFLWPGFGE | 1 | Bos taurus | W527 | DGKFLWPGFGE | 1 | Mus musculus | W527 | NGKFLWPGFGE | 1 | Rattus norvegicus | Y235 | SFGSGYGGNSL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus |
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