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mutLBSgeneDB |
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| Gene summary for HMGCS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | HMGCS1 |
| Gene name | 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) | |
| Synonyms | HMGCS | |
| Cytomap | UCSC genome browser: 5p14-p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001098272.2, NM_002130.7, | |
| Description | 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)hydroxymethylglutaryl-CoA synthase, cytoplasmic | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 142940 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112972 | ||
| HPRD : 07515 | ||
| Vega : OTTHUMG00000162231 | ||
| Protein | UniProt: Q01581 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HMGCS1 | |
| BioGPS: 3157 | ||
| Pathway | NCI Pathway Interaction Database: HMGCS1 | |
| KEGG: HMGCS1 | ||
| REACTOME: HMGCS1 | ||
| Pathway Commons: HMGCS1 | ||
| Context | iHOP: HMGCS1 | |
| ligand binding site mutation search in PubMed: HMGCS1 | ||
| UCL Cancer Institute: HMGCS1 | ||
| 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 |
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| Ligand binding site mutations for HMGCS1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y267,K269 | C268S | HNSC | 1 | K273 | S274F | 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 HMGCS1 |
| 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 | Y267 | C268S | -1.2021278 | K269 | C268S | -1.2021278 | K273 | S274F | -0.29369627 |
| (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 HMGCS1 from PDB |
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| Differential gene expression and gene-gene network for HMGCS1 |
| 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 HMGCS1 |
| 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 HMGCS1 |
| 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 | DB07740 | (3R,5S,7R,12S,13R)-13-FORMYL-12,14-DIHYDROXY-3,5,7-TRIMETHYLTETRADECANOIC ACID | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HMGCS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | COA | COENZYME A | 2p8u | A | Y267 K269 K273 | COA | COENZYME A | 2p8u | B | Y267 K269 K273 |
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| Conservation information for LBS of HMGCS1 |
| Multiple alignments for Q01581 in multiple species |
| LBS | AA sequence | # species | Species | A168 | YATGNARPTGG | 3 | Homo sapiens, Gallus gallus, Mus musculus | A168 | YAEGPARPTGG | 1 | Arabidopsis thaliana | A168 | YASGNARPTGG | 1 | Rattus norvegicus | A168 | YDKGAARPTGG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A168 | YAKGNARPTGG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A44 | YDGVDAGKYTI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | A44 | HDGASKGKYTI | 1 | Arabidopsis thaliana | A44 | FDGVSQGKYTI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A44 | HDGVSTGKYTI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D43 | KYDGVDAGKYT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | D43 | AHDGASKGKYT | 1 | Arabidopsis thaliana | D43 | KFDGVSQGKYT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D43 | AHDGVSTGKYT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G218 | YPVVDGKLSIQ | 3 | Gallus gallus, Mus musculus, Rattus norvegicus | G218 | YPIVDGKLSIQ | 1 | Homo sapiens | G218 | YPVVDGKLSQT | 1 | Arabidopsis thaliana | G218 | YPYVDGHFSLT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G218 | YPYVDGHFSLE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G45 | DGVDAGKYTIG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G45 | DGASKGKYTIG | 1 | Arabidopsis thaliana | G45 | DGVSQGKYTIG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G45 | DGVSTGKYTIG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G50 | GKYTIGLGQAR | 2 | Mus musculus, Rattus norvegicus | G50 | GKYTIGLGQAK | 1 | Homo sapiens | G50 | GKYTIGLGQDC | 1 | Arabidopsis thaliana | G50 | GKYTIGLGQSK | 1 | Gallus gallus | G50 | GKYTIGLGQTN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G50 | GKYTIGLGLTK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I222 | DGKLSIQCYLS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I222 | DGKLSQTCYLM | 1 | Arabidopsis thaliana | I222 | DGHFSLTCYVK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I222 | DGHFSLECYVK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K269 | HSPYCKLVQKS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K269 | HSPYNKLVQKS | 1 | Arabidopsis thaliana | K269 | HVPTCKLVTKS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K269 | HAPTCKQVQKA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K273 | CKLVQKSLARM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K273 | NKLVQKSFARL | 1 | Arabidopsis thaliana | K273 | CKLVQKSVARL | 1 | Gallus gallus | K273 | CKLVTKSYGRL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K273 | CKQVQKAYARL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K46 | GVDAGKYTIGL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K46 | GASKGKYTIGL | 1 | Arabidopsis thaliana | K46 | GVSQGKYTIGL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K46 | GVSTGKYTIGL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L270 | SPYCKLVQKSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L270 | SPYNKLVQKSF | 1 | Arabidopsis thaliana | L270 | SPYCKLVQKSV | 1 | Gallus gallus | L270 | VPTCKLVTKSY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L270 | APTCKQVQKAY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N167 | VYATGNARPTG | 2 | Homo sapiens, Gallus gallus | N167 | VYAEGPARPTG | 1 | Arabidopsis thaliana | N167 | IYATGNARPTG | 1 | Mus musculus | N167 | IYASGNARPTG | 1 | Rattus norvegicus | N167 | IYDKGAARPTG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N167 | LYAKGNARPTG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P266 | MIFHSPYCKLV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | P266 | IVFHSPYNKLV | 1 | Arabidopsis thaliana | P266 | NVFHVPTCKLV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P266 | CIFHAPTCKQV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S221 | VDGKLSIQCYL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | S221 | VDGKLSQTCYL | 1 | Arabidopsis thaliana | S221 | VDGHFSLTCYV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S221 | VDGHFSLECYV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T171 | GNARPTGGVGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T171 | GPARPTGGAAA | 1 | Arabidopsis thaliana | T171 | GNARPTGGAGA | 1 | Gallus gallus | T171 | GAARPTGGAGT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T171 | GNARPTGGAGC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V216 | SEYPVVDGKLS | 4 | Arabidopsis thaliana, Gallus gallus, Mus musculus, Rattus norvegicus | V216 | SEYPYVDGHFS | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V216 | SEYPIVDGKLS | 1 | Homo sapiens | Y163 | GDIAVYATGNA | 2 | Homo sapiens, Gallus gallus | Y163 | TDSAVYAEGPA | 1 | Arabidopsis thaliana | Y163 | GDIAIYATGNA | 1 | Mus musculus | Y163 | GDIAIYASGNA | 1 | Rattus norvegicus | Y163 | GDIAIYDKGAA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y163 | GDIALYAKGNA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y267 | IFHSPYCKLVQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Y267 | VFHSPYNKLVQ | 1 | Arabidopsis thaliana | Y267 | VFHVPTCKLVT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y267 | IFHAPTCKQVQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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