mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ZMPSTE24
Gene summary
Basic gene Info.Gene symbolZMPSTE24
Gene namezinc metallopeptidase STE24
CytomapUCSC genome browser: 1p34
Type of geneprotein-coding
DescriptionCAAX prenyl protease 1 homologfarnesylated proteins-converting enzyme 1prenyl protein-specific endoprotease 1zinc metallopeptidase STE24 homologzinc metalloproteinase Ste24 homolog
Modification date20141207
dbXrefs MIM : 606480
Ensembl : ENSG00000084073
HPRD : 07349
Vega : OTTHUMG00000005762
ProteinUniProt: O75844
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ZMPSTE24
BioGPS: 10269
PathwayNCI Pathway Interaction Database: ZMPSTE24
Pathway Commons: ZMPSTE24
ContextiHOP: ZMPSTE24
ligand binding site mutation search in PubMed: ZMPSTE24
UCL Cancer Institute: ZMPSTE24
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for ZMPSTE24

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of ZMPSTE24 and the right PPI network was created from samples without mutations in the LBS of ZMPSTE24. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ZMPSTE24
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1837756Mandibuloacral dysplasia with type B lipodystrophy3Biomarker, GeneticVariation
umls:C0017668Glomerulosclerosis, Focal Segmental1Biomarker
umls:C0376634Craniofacial Abnormalities1Biomarker
umls:C1136321HIV-Associated Lipodystrophy Syndrome1Biomarker
umls:C0024689Mandibular Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ZMPSTE24 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (CYS,SER,ILE)2yptAN265 E415
IIIPeptide ligand (CYS,SER,ILE,MET)2yptBN265 E415
IIIPeptide ligand (CYS,SER,ILE,MET)2yptDN265 E415
IIIPeptide ligand (CYS,SER,ILE)2yptEN265 E415

Conservation information for LBS of ZMPSTE24
Multiple alignments for O75844 in multiple species
LBSAA sequence# speciesSpecies
A266SSHSNAYFYGF2Homo sapiens, Mus musculus
A266SSHSNAYMYGF2Arabidopsis thaliana, Oryza sativa subsp. japonica
A266STHSNAFFYGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A266SSHSNAYFTGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A266SAHSNAYMYGF1Caenorhabditis elegans
E336AVLGHELGHWK2Homo sapiens, Mus musculus
E336AILGHELGHWY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E336AVLAHEIGHWQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E336AVLGHELGHWA1Caenorhabditis elegans
E336AVIAHELGHWK1Arabidopsis thaliana
E336SVIAHELGHWK1Oryza sativa subsp. japonica
E415LSRRFEFQADA2Homo sapiens, Mus musculus
E415VSRAFEFQADA2Arabidopsis thaliana, Oryza sativa subsp. japonica
E415VSRLCEYQADA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E415ISRTHEYQADA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E415HSRSAEFGADE1Caenorhabditis elegans
H335LAVLGHELGHW2Homo sapiens, Mus musculus
H335IAILGHELGHW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H335TAVLAHEIGHW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H335VAVLGHELGHW1Caenorhabditis elegans
H335VAVIAHELGHW1Arabidopsis thaliana
H335VSVIAHELGHW1Oryza sativa subsp. japonica
H339GHELGHWKLGH2Homo sapiens, Mus musculus
H339AHELGHWKLNH2Arabidopsis thaliana, Oryza sativa subsp. japonica
H339GHELGHWYMSH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H339AHEIGHWQKNH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H339GHELGHWALWH1Caenorhabditis elegans
H459AYHYSHPPLVE2Arabidopsis thaliana, Oryza sativa subsp. japonica
H459MWHYSHPPLLE1Homo sapiens
H459SYYHSHPILVD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H459SYHYSHPTLAE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H459WCTHTHPPVVE1Caenorhabditis elegans
H459TWHYSHPPLLE1Mus musculus
N265RSSHSNAYFYG2Homo sapiens, Mus musculus
N265RSSHSNAYMYG2Arabidopsis thaliana, Oryza sativa subsp. japonica
N265RSTHSNAFFYG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N265RSSHSNAYFTG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N265RSAHSNAYMYG1Caenorhabditis elegans
N442KLNKDNLGFPV2Homo sapiens, Mus musculus
N442KLQEENLSAMN2Arabidopsis thaliana, Oryza sativa subsp. japonica
N442RIHDDNLSPLE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N442DLQIKNLSTMN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N442KLGVDNLSMPI1Caenorhabditis elegans
R465PPLLERLQALK2Homo sapiens, Mus musculus
R465PILVDRLNAID1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R465PTLAERLTALD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R465PPVVERVAAVR1Caenorhabditis elegans
R465PPLVERLRAID1Arabidopsis thaliana
R465PPLVERLSALE1Oryza sativa subsp. japonica
Y267SHSNAYFYGF-2Homo sapiens, Mus musculus
Y267SHSNAYMYGF-2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y267THSNAFFYGLP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y267SHSNAYFTGLP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y267AHSNAYMYGF-1Caenorhabditis elegans

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