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mutLBSgeneDB |
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| Gene summary for ZMPSTE24 |
 Gene summary |
| Basic gene Info. | Gene symbol | ZMPSTE24 |
| Gene name | zinc metallopeptidase STE24 | |
| Synonyms | FACE-1|FACE1|HGPS|PRO1|STE24|Ste24p | |
| Cytomap | UCSC genome browser: 1p34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005857.4, | |
| Description | CAAX prenyl protease 1 homologfarnesylated proteins-converting enzyme 1prenyl protein-specific endoprotease 1zinc metallopeptidase STE24 homologzinc metalloproteinase Ste24 homolog | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606480 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000084073 | ||
| HPRD : 07349 | ||
| Vega : OTTHUMG00000005762 | ||
| Protein | UniProt: O75844 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ZMPSTE24 | |
| BioGPS: 10269 | ||
| Pathway | NCI Pathway Interaction Database: ZMPSTE24 | |
| KEGG: ZMPSTE24 | ||
| REACTOME: ZMPSTE24 | ||
| Pathway Commons: ZMPSTE24 | ||
| Context | iHOP: ZMPSTE24 | |
| ligand binding site mutation search in PubMed: ZMPSTE24 | ||
| UCL Cancer Institute: ZMPSTE24 | ||
| 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 |
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| Ligand binding site mutations for ZMPSTE24 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E415 | F416V | STAD | 1 | N265 | H263R | 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 ZMPSTE24 |
| 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 | E415 | F416V | -1.0635801 | N265 | H263R | -0.26668077 |
| (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 ZMPSTE24 from PDB |
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| Differential gene expression and gene-gene network for ZMPSTE24 |
| 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 ZMPSTE24 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033300 | Progeria | 29 | Biomarker |
| umls:C0023787 | Lipodystrophy | 7 | Biomarker |
| umls:C1837756 | Mandibuloacral dysplasia with type B lipodystrophy | 3 | Biomarker, GeneticVariation |
| umls:C0917990 | Acro-Osteolysis | 3 | Biomarker |
| umls:C0017668 | Glomerulosclerosis, Focal Segmental | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C1136321 | HIV-Associated Lipodystrophy Syndrome | 1 | Biomarker |
| umls:C0024689 | Mandibular Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ZMPSTE24 |
| 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 ZMPSTE24 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2ypt | A | E415 | ZN | ZINC(2+) | 2ypt | B | E415 | ZN | ZINC(2+) | 2ypt | D | E415 | ZN | ZINC(2+) | 2ypt | E | E415 | ZN | ZINC(2+) | 4aw6 | A | E415 | ZN | ZINC(2+) | 4aw6 | B | E415 | ZN | ZINC(2+) | 4aw6 | D | E415 | ZN | ZINC(2+) | 4aw6 | E | E415 | III | Peptide ligand (CYS,SER,ILE) | 2ypt | A | N265 E415 | III | Peptide ligand (CYS,SER,ILE,MET) | 2ypt | B | N265 E415 | III | Peptide ligand (CYS,SER,ILE,MET) | 2ypt | D | N265 E415 | III | Peptide ligand (CYS,SER,ILE) | 2ypt | E | N265 E415 |
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| Conservation information for LBS of ZMPSTE24 |
| Multiple alignments for O75844 in multiple species |
| LBS | AA sequence | # species | Species | A266 | SSHSNAYFYGF | 2 | Homo sapiens, Mus musculus | A266 | SSHSNAYMYGF | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | A266 | STHSNAFFYGL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A266 | SSHSNAYFTGL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A266 | SAHSNAYMYGF | 1 | Caenorhabditis elegans | E336 | AVLGHELGHWK | 2 | Homo sapiens, Mus musculus | E336 | AILGHELGHWY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E336 | AVLAHEIGHWQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E336 | AVLGHELGHWA | 1 | Caenorhabditis elegans | E336 | AVIAHELGHWK | 1 | Arabidopsis thaliana | E336 | SVIAHELGHWK | 1 | Oryza sativa subsp. japonica | E415 | LSRRFEFQADA | 2 | Homo sapiens, Mus musculus | E415 | VSRAFEFQADA | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | E415 | VSRLCEYQADA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E415 | ISRTHEYQADA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E415 | HSRSAEFGADE | 1 | Caenorhabditis elegans | H335 | LAVLGHELGHW | 2 | Homo sapiens, Mus musculus | H335 | IAILGHELGHW | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H335 | TAVLAHEIGHW | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H335 | VAVLGHELGHW | 1 | Caenorhabditis elegans | H335 | VAVIAHELGHW | 1 | Arabidopsis thaliana | H335 | VSVIAHELGHW | 1 | Oryza sativa subsp. japonica | H339 | GHELGHWKLGH | 2 | Homo sapiens, Mus musculus | H339 | AHELGHWKLNH | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H339 | GHELGHWYMSH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H339 | AHEIGHWQKNH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H339 | GHELGHWALWH | 1 | Caenorhabditis elegans | H459 | AYHYSHPPLVE | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H459 | MWHYSHPPLLE | 1 | Homo sapiens | H459 | SYYHSHPILVD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H459 | SYHYSHPTLAE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H459 | WCTHTHPPVVE | 1 | Caenorhabditis elegans | H459 | TWHYSHPPLLE | 1 | Mus musculus | N265 | RSSHSNAYFYG | 2 | Homo sapiens, Mus musculus | N265 | RSSHSNAYMYG | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | N265 | RSTHSNAFFYG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N265 | RSSHSNAYFTG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N265 | RSAHSNAYMYG | 1 | Caenorhabditis elegans | N442 | KLNKDNLGFPV | 2 | Homo sapiens, Mus musculus | N442 | KLQEENLSAMN | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | N442 | RIHDDNLSPLE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N442 | DLQIKNLSTMN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N442 | KLGVDNLSMPI | 1 | Caenorhabditis elegans | R465 | PPLLERLQALK | 2 | Homo sapiens, Mus musculus | R465 | PILVDRLNAID | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R465 | PTLAERLTALD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R465 | PPVVERVAAVR | 1 | Caenorhabditis elegans | R465 | PPLVERLRAID | 1 | Arabidopsis thaliana | R465 | PPLVERLSALE | 1 | Oryza sativa subsp. japonica | Y267 | SHSNAYFYGF- | 2 | Homo sapiens, Mus musculus | Y267 | SHSNAYMYGF- | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | Y267 | THSNAFFYGLP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y267 | SHSNAYFTGLP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y267 | AHSNAYMYGF- | 1 | Caenorhabditis elegans |
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