mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 CASP1
Gene summary
Basic gene Info.Gene symbolCASP1
Gene namecaspase 1, apoptosis-related cysteine peptidase
SynonymsICE|IL1BC|P45
CytomapUCSC genome browser: 11q23
Type of geneprotein-coding
RefGenesNM_001223.4,
NM_001257118.2,NM_001257119.2,NM_033292.3,NM_033293.3,
NM_033294.3,NM_033295.3,
DescriptionCASP1 nirs variant 1IL-1 beta-converting enzymeIL1B-convertasecaspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)caspase-1interleukin 1, beta, convertaseinterleukin 1-B converting enzyme
Modification date20141222
dbXrefs MIM : 147678
HGNC : HGNC
Ensembl : ENSG00000137752
HPRD : 00977
Vega : OTTHUMG00000048072
ProteinUniProt: P29466
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CASP1
BioGPS: 834
PathwayNCI Pathway Interaction Database: CASP1
KEGG: CASP1
REACTOME: CASP1
Pathway Commons: CASP1
ContextiHOP: CASP1
ligand binding site mutation search in PubMed: CASP1
UCL Cancer Institute: CASP1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006508proteolysis12888622
GO:0071310cellular response to organic substance19158679


Top
Ligand binding site mutations for CASP1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C331A329TCOAD1
M345M345ILUAD1
E390T388NLUAD1
E390E390KLUAD1
C331A329TOV1
C331C331WPRAD1
S236S236FSTAD1
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.


Top
Protein structure related information for CASP1
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
E390E390K-1.105366
S236S236F-1.0525217
E390T388N-1.0299225
C331A329T-0.97484169
M345M345I-0.41398124
C331C331W-0.30397525
(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 CASP1 from PDB

Top
Differential gene expression and gene-gene network for CASP1
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 CASP1 and the right PPI network was created from samples without mutations in the LBS of CASP1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for CASP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1862939Amyotrophic lateral sclerosis 13Biomarker, GeneticVariation
umls:C0032285Pneumonia3Biomarker
umls:C0001925Albuminuria1Biomarker
umls:C0598608Hyperhomocysteinemia1Biomarker
umls:C0020517Hypersensitivity1Biomarker
umls:C0021368Inflammation1Biomarker
umls:C0021655Insulin Resistance1Biomarker
umls:C0022658Kidney Diseases1Biomarker
umls:C0027055Myocardial Reperfusion Injury1Biomarker
umls:C0028754Obesity1Biomarker
umls:C0038220Status Epilepticus1Biomarker

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

Top
Pharmacological information for CASP1
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB01017MinocyclineSmall molecule
InvestigationalDB04875PralnacasanSmall molecule
InvestigationalDB05301LAX-101Small molecule
InvestigationalDB05408IDN-6556Small molecule
InvestigationalDB05507VX-765Small molecule
ExperimentalDB077331-METHYL-3-TRIFLUOROMETHYL-1H-THIENO[2,3-C]PYRAZOLE-5-CARBOXYLIC ACID (2-MERCAPTO-ETHYL)-AMIDESmall molecule
ExperimentalDB077443-[2-(2-BENZYLOXYCARBONYLAMINO-3-METHYL-BUTYRYLAMINO)-PROPIONYLAMINO]-4-OXO-PENTANOIC ACIDSmall molecule
ExperimentalDB079163-{6-[(8-HYDROXY-QUINOLINE-2-CARBONYL)-AMINO]-2-THIOPHEN-2-YL-HEXANOYLAMINO}-4-OXO-BUTYRI ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CASP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
F1G1-METHYL-3-TRIFLUOROMETHYL-1H-THIENO[2,3-C]PYRAZOLE-5-CARBOXYLIC ACID (2-MERCAPTO-ETHYL)-AMIDE2fqqBC331 E390
4QB3-{2-ETHYL-6-[4-(QUINOXALIN-2-YLAMINO)-BENZOYLAMINO]-HEXANOYLAMINO}-4-OXO-BUTYRIC ACID1rwnBM345
BTH4-OXO-3-{6-[4-(QUINOXALIN-2-YLAMINO)-BENZOYLAMINO]-2-THIOPHEN-2-YL-HEXANOYLAMINO}-PENTANOIC ACID1rwoBM345
OQB4-OXO-3-[(6-{[4-(QUINOXALIN-2-YLAMINO)-BENZOYLAMINO]-METHYL}-PYRIDINE-3-CARBONYL)-AMINO]-BUTYRIC ACID1rwwBM345
5PH5-[5-(1-CARBOXYMETHYL-2-OXO-PROPYLCARBAMOYL)-5-PHENYL-PENTYLSULFAMOYL]-2-HYDROXY-BENZOIC ACID1rwvAS236
MLIMALONATE(2-)1sc3AS236
IIIPeptide ligand (PHQ,VAL,ALA,ASP,CF0)2hbrAS236
3NS(3S)-4-HYDROXY-3-{[(2S)-4-{[2-(2-METHYL-1H-BENZIMIDAZOL-1-YL)ETHYL]AMINO}-2-(1-METHYLETHYL)-4-OXOBUTANOYL]AMINO}BUTANOIC ACID3ns7AS236


Top
Conservation information for LBS of CASP1
Multiple alignments for P29466 in multiple species
LBSAA sequence# speciesSpecies
A284VIIIQACRGDS1Homo sapiens
A284VIIIQACRGEN1Canis lupus familiaris
A284VIIIQACRGEK1Mus musculus
C285IIIQACRGDSP1Homo sapiens
C285IIIQACRGENP1Canis lupus familiaris
C285IIIQACRGEKQ1Mus musculus
C331DFIAFCSSTPD2Homo sapiens, Mus musculus
C331DFIAFCSSTPH1Canis lupus familiaris
D381SFEQPDGRAQM1Homo sapiens
D381SFEKPDVKAQM1Canis lupus familiaris
D381SFEQPEFRLQM1Mus musculus
E390QMPTTERVTLT1Homo sapiens
E390QMPTIERVSMT1Canis lupus familiaris
E390QMPTADRVTLT1Mus musculus
F377KVRFSFEQPDG1Homo sapiens
F377KVQQSFEKPDV1Canis lupus familiaris
F377KVRFSFEQPEF1Mus musculus
G238VFMSHGIREGI1Homo sapiens
G238VLMSHGILNGI1Canis lupus familiaris
G238VFMSHGIQEGI1Mus musculus
G346RHPTMGSVFIG1Homo sapiens
G346RHITKGSLFIA1Canis lupus familiaris
G346RHPVRGSLFIE1Mus musculus
H237LVFMSHGIREG1Homo sapiens
H237LVLMSHGILNG1Canis lupus familiaris
H237LVFMSHGIQEG1Mus musculus
H342NVSWRHPTMGS1Homo sapiens
H342NVSWRHITKGS1Canis lupus familiaris
H342NVSWRHPVRGS1Mus musculus
L258PDILQLNAIFN1Homo sapiens
L258PDVLAYDTIFQ1Canis lupus familiaris
L258SDILKVDTIFQ1Mus musculus
M345WRHPTMGSVFI1Homo sapiens
M345WRHITKGSLFI1Canis lupus familiaris
M345WRHPVRGSLFI1Mus musculus
P177EFDSIPRRTGA1Homo sapiens
P177EFDHLSTRDGA1Canis lupus familiaris
P177EFQHLSPRVGA1Mus musculus
P343VSWRHPTMGSV1Homo sapiens
P343VSWRHITKGSL1Canis lupus familiaris
P343VSWRHPVRGSL1Mus musculus
Q283KVIIIQACRGE2Canis lupus familiaris, Mus musculus
Q283KVIIIQACRGD1Homo sapiens
R179DSIPRRTGAEV1Homo sapiens
R179DHLSTRDGAEL1Canis lupus familiaris
R179QHLSPRVGAQV1Mus musculus
R286IIQACRGDSPG1Homo sapiens
R286IIQACRGENPG1Canis lupus familiaris
R286IIQACRGEKQG1Mus musculus
R341DNVSWRHPTMG1Homo sapiens
R341HNVSWRHITKG1Canis lupus familiaris
R341DNVSWRHPVRG1Mus musculus
R352SVFIGRLIEHM1Homo sapiens
R352SLFIAQLITCF1Canis lupus familiaris
R352SLFIESLIKHM1Mus musculus
R383EQPDGRAQMPT1Homo sapiens
R383EKPDVKAQMPT1Canis lupus familiaris
R383EQPEFRLQMPT1Mus musculus
S236FLVFMSHGIRE1Homo sapiens
S236FLVLMSHGILN1Canis lupus familiaris
S236FLVFMSHGIQE1Mus musculus
S339TPDNVSWRHPT1Homo sapiens
S339TPHNVSWRHIT1Canis lupus familiaris
S339TPDNVSWRHPV1Mus musculus
S347HPTMGSVFIGR1Homo sapiens
S347HITKGSLFIAQ1Canis lupus familiaris
S347HPVRGSLFIES1Mus musculus
V338STPDNVSWRHP2Homo sapiens, Mus musculus
V338STPHNVSWRHI1Canis lupus familiaris
V348PTMGSVFIGRL1Homo sapiens
V348ITKGSLFIAQL1Canis lupus familiaris
V348PVRGSLFIESL1Mus musculus
W340PDNVSWRHPTM1Homo sapiens
W340PHNVSWRHITK1Canis lupus familiaris
W340PDNVSWRHPVR1Mus musculus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas